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Sample records for chromosome 17q distal

  1. Nerve growth factor receptor gene is at human chromosome region 17q12-17q22, distal to the chromosome 17 breakpoint in acute leukemias

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    Huebner, K.; Isobe, M.; Chao, M.; Bothwell, M.; Ross, A.H.; Finan, J.; Hoxie, J.A.; Sehgal, A.; Buck, C.R.; Lanahan, A.

    1986-03-01

    Genomic and cDNA clones for the human nerve growth factor receptor have been used in conjunction with somatic cell hybrid analysis and in situ hybridization to localize the nerve growth factor receptor locus to human chromosome region 17q12-q22. Additionally, part, if not all, of the nerve growth factor receptor locus is present on the translocated portion of 17q (17q21-qter) from a poorly differential acute leukemia in which the chromosome 17 breakpoint was indistinguishable cytogenetically from the 17 breakpoint observed in the t(15;17)(q22;q21) translocation associated with acute promyelocytic leukemia. Thus the nerve growth factor receptor locus may be closely distal to the acute promyelocytic leukemia-associated chromosome 17 breakpoint at 17q21.

  2. Linkage analysis of 19 French breast cancer families, with five chromosome 17q markers.

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    Mazoyer, S; Lalle, P.; Narod, S. A.; Bignon, Y J; Courjal, F; Jamot, B.; Dutrillaux, B.; Stoppa-Lyonnett, D; Sobol, H

    1993-01-01

    Nineteen French breast and breast-ovarian cancer families were tested for linkage with five chromosome 17q markers. The five breast-ovarian cancer families as a group give positive evidence for linkage, whereas the 14 breast cancer-only families do not. Heterogeneity of linkage of breast and breast-ovarian cancers is significant in France and supports the existence of more than one susceptibility gene.

  3. Brief clinical report: duplication of distal 17q: report of an observation.

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    Naccache, N F; Vianna-Morgante, A M; Richieri-Costa, A

    1984-03-01

    We describe a boy with the syndrome due to dup(17q) resulting from a paternal balanced t(12;17) (q24;q23). The comparison of the clinical findings in our patient with those previously reported shows that the dup(17q23----qter) is associated with a clinically recognizable syndrome. Anomalies present in greater than or equal to 75% of the patients were severe psychomotor retardation; short stature; microcephaly; frontal bossing and temporal retraction; widow's peak; narrow palpebral fissures; flat nasal bridge; thin upper lip overlapping thin lower lip; downturned corners of the mouth; apparently low-set, posteriorly angulated and malformed ears; low posterior hairline; widely spaced nipples; cryptorchidism; proximal limb shortness; and hyperlaxity of limb joints. The translocation carrier father of our patient had a Poland anomaly.

  4. Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood

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    Bisgaard, Hans; Bønnelykke, Klaus; Sleiman, Patrick M A

    2009-01-01

    RATIONALE: An asthma predisposition locus on chromosome 17q12-q21 has recently been replicated in different ethnic groups. OBJECTIVES: To characterize the asthma and atopy phenotypes in early childhood that associate with the 17q12-21 locus. METHODS: The single nucleotide polymorphism (SNP), rs......7216389, was genotyped in 376 of 411 children from the Copenhagen Prospective Study on Asthma in Childhood (COPSAC) birth cohort born to mothers with asthma together with 305 mothers and 224 fathers. Nineteen additional SNPs in the region were genotyped in the children. Investigator-diagnosed clinical...

  5. Polymorphisms and haplotypes of the chromosome locus 17q12-17q21.1 contribute to adult asthma susceptibility in Slovenian patients.

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    Žavbi, Mateja; Korošec, Peter; Fležar, Matjaž; Škrgat Kristan, Sabina; Marc Malovrh, Mateja; Rijavec, Matija

    2016-06-01

    One of the major asthma susceptibility loci is 17q12-17q21.1, but the relationship between this locus and adult asthma is unclear. Association analysis of 13 single nucleotide polymorphisms (SNPs) and haplotypes from 17q12-17q21.1 was performed in 418 adult patients with asthma and 288 controls from Slovenia. Single SNP analysis revealed only marginal associations with adult asthma for SNPs located in GSDMA, GSDMB, ORMDL3 and ZPBP2 genes, and rs7219080 was the most highly associated. Analyses of asthma phenotypes found no association with atopy or lung function, but rs2305480 and rs8066582 were associated with childhood asthma and rs9916279 was associated with asthma in smokers. Notably, haplotypes consisting of rs9916279, rs8066582, rs1042658, and rs2302777 harbouring PSMD3, CSF3 and MED24 genes were highly associated with asthma. The four most common haplotypes, TCCG, TTTA, CCCA and TTCA, were more frequent in patients with asthma, whereas TTCG, TCCA, TCTA and TTTG were more frequent in controls. Only 3% of asthma patients belonged to haplotypes TTCG, TCCA, TCTA and TTTG compared with nearly one-third (31%) of controls. Associations confirmed that the 17q12-17q21.1 locus harbours a genetic determinant for asthma risk in adults and suggest that in addition to the previously known ORMDL3-GSDM locus, CSF3-PSMD3-MED24 also plays a role in asthma pathogenesis.

  6. Association of genetic variants in chromosome 17q21 and adult-onset asthma in a Chinese Han population

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    Gong Yaoqin

    2011-10-01

    Full Text Available Abstract Background Genome-wide association studies of asthma have identified a novel region containing ORMDL3 at chromosome 17q21 that is strongly associated with childhood-onset asthma and significantly linked to ORMDL3 transcript abundance. These results have been successfully replicated in childhood-onset asthma cohorts in several ethnic groups. In this study, we aimed to evaluate the association of polymorphisms in ORMDL3, GSDMB, ZPBP2 and IKZF3 and adult-onset asthma in a Chinese Han population. Methods We genotyped 5 single nucleotide polymorphisms (SNPs at chromosome 17q21 in 1,366 Han Chinese people comprising 710 patients with adult-onset asthma and 656 healthy controls. We compared the 2 groups in terms of allele and haplotype frequencies. Transcript levels were measured in leukocytes from 61 asthma patients by quantitative real-time PCR. Results We found the 5 SNPs significantly associated with asthma (PORMDL3 and GSDMB in leukocytes (all p Conclusions Our replication study suggests that variants in 17q21 are significantly associated with risk of adult-onset asthma and gene expression in a Chinese Han population.

  7. Association between single nucleotide polymorphisms on chromosome 17q and the risk of prostate cancer in a Chinese population

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    Chang-Hu Zhou; Dong Wei; Ze Yang; Jian-Ye Wang; Su-Yan Cao; Xiao-Hong Shi; Yao-Guang Zhang; Ming Liu; Xin Wang; Jin Huang; Yi-Ge Yang

    2011-01-01

    In European populations,7 single nucleotide polymorphisms(SNPs) on chromosome 17q,3 SNPs on 17812,and 4 SNPs on 17824.3 were recently identified to be closely related to the risk of prostate cancer by a genome-wide association study.In Japanese populations,the correlation between 2 SNPs on 17q and the risk of prostate cancer and tumor aggressiveness was also confirmed by a large-scale experiment.However,whether 17q is associated with prostate cancer and its clinical manifestations in Chinese populations is still unknown.Therefore,we conducted a case-control study in a northern Chinese population and tested 2 SNPs,rs4430796 and rs1859962,on 17q in 124 prostate cancer patients and 111 controls using polymerase chain reaction-high resolution melting curve (PCR-HRM) combined with sequencing.We analyzed the association of the 2 SNPs with the risk of prostate cancer as well as patients'lifestyles,onset ages,Gleason scores,PSA levels,and pathologic stages.We found a significant difference in the G allele of SNP rs1859962(P=0.035,OR=1.51,95% CI=1.03-2.21) but not in the rs4430796 genotype frequency or allele frequency distribution between prostate cancer patients and the controls(P>0.05).Neither of the SNPs was significantly associated with the onset age,Gleason score,PSA level,pathologic stage,or other clinical indicators of patients with prostate cancer(P>0.05).Our results show that polymorphism of the G allele of SNP rs1859962 is associated with the risk of prostate cancer in a Chinese population.

  8. Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication

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    Cardone, Maria Francesca; Jiang, Zhaoshi; D'Addabbo, Pietro; Archidiacono, Nicoletta; Rocchi, Mariano; Eichler, Evan E.; Ventura, Mario

    2008-01-01

    Background Chromosomal rearrangements, such as translocations and inversions, are recurrent phenomena during evolution, and both of them are involved in reproductive isolation and speciation. To better understand the molecular basis of chromosome rearrangements and their part in karyotype evolution, we have investigated the history of human chromosome 17 by comparative fluorescence in situ hybridization (FISH) and sequence analysis. Results Human bacterial artificial chromosome/p1 artificial ...

  9. Effects of a 17q21 chromosome gene variant, tobacco smoke and furred pets on infant wheeze.

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    Bräuner, E V; Loft, S; Raaschou-Nielsen, O; Vogel, U; Andersen, P S; Sørensen, M

    2012-01-01

    The first common genetic factor identified for pediatric asthma by genome-wide association is the chromosome 17q21 locus, harbouring the ORMDL3 gene. ORMDL3 is involved in facilitation of endoplasmic reticulum-mediated inflammatory responses, believed to underlie its asthma association. We investigated associations between the rs7216389 polymorphism in the 17q21 locus affecting ORMDL3 expression and the risk for recurrent wheeze and interactions with exposure to tobacco smoke and furred pets during pregnancy and infancy using a birth cohort of 101,042 infants. Rs7216389 was significantly associated with recurrent wheeze risk among 18-month-old infants. There was a 1.35-fold higher risk of recurrent wheeze among homozygous variant allele carriers compared with homozygous wild-type allele carriers. There was significant interaction between rs7216389 and domestic furred pets, with a positive association between pets and wheeze among homozygous wild-type carriers and a negative association among homozygous variant allele carriers. There was no interaction between rs7216389 and tobacco smoke exposure.

  10. Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition

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    Ollier William

    2005-04-01

    Full Text Available Abstract Background The selection of markers in association studies can be informed through the use of haplotype blocks. Recent reports have determined the genomic architecture of chromosomal segments through different haplotype block definitions based on linkage disequilibrium (LD measures or haplotype diversity criteria. The relative applicability of distinct block definitions to association studies, however, remains unclear. We compared different block definitions in 6.1 Mb of chromosome 17q in 189 unrelated healthy individuals. Using 137 single nucleotide polymorphisms (SNPs, at a median spacing of 15.5 kb, we constructed haplotype block maps using published methods and additional methods we have developed. Haplotype tagging SNPs (htSNPs were identified for each map. Results Blocks were found to be shorter and coverage of the region limited with methods based on LD measures, compared to the method based on haplotype diversity. Although the distribution of blocks was highly variable, the number of SNPs that needed to be typed in order to capture the maximum number of haplotypes was consistent. Conclusion For the marker spacing used in this study, choice of block definition is not important when used as an initial screen of the region to identify htSNPs. However, choice of block definition has consequences for the downstream interpretation of association study results.

  11. Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition.

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    Zeggini, Eleftheria; Barton, Anne; Eyre, Stephen; Ward, Daniel; Ollier, William; Worthington, Jane; John, Sally

    2005-04-25

    The selection of markers in association studies can be informed through the use of haplotype blocks. Recent reports have determined the genomic architecture of chromosomal segments through different haplotype block definitions based on linkage disequilibrium (LD) measures or haplotype diversity criteria. The relative applicability of distinct block definitions to association studies, however, remains unclear. We compared different block definitions in 6.1 Mb of chromosome 17q in 189 unrelated healthy individuals. Using 137 single nucleotide polymorphisms (SNPs), at a median spacing of 15.5 kb, we constructed haplotype block maps using published methods and additional methods we have developed. Haplotype tagging SNPs (htSNPs) were identified for each map. Blocks were found to be shorter and coverage of the region limited with methods based on LD measures, compared to the method based on haplotype diversity. Although the distribution of blocks was highly variable, the number of SNPs that needed to be typed in order to capture the maximum number of haplotypes was consistent. For the marker spacing used in this study, choice of block definition is not important when used as an initial screen of the region to identify htSNPs. However, choice of block definition has consequences for the downstream interpretation of association study results.

  12. Gene duplication of the human peptide YY gene (PYY) generated the pancreatic polypeptide gene (PPY) on chromosome 17q21.1

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    Hort, Y.; Shine, J.; Herzog, H. [Garvan Inst. of Medical Research, Sydney (Australia)

    1995-03-01

    Neuropeptide Y (NPY), peptide YY (PYY), and pancreatic polypeptide (PP) are structurally related but functionally diverse peptides, encoded by separate genes and expressed in different tissues. Although the human NPY gene has been mapped to chromosome 7, the authors demonstrate here that the genes for human PYY and PP (PPY) are localized only 10 kb apart from each another on chromosome 17q21.1. The high degree of homology between the members of this gene family, both in primary sequence and exon/intron structure, suggests that the NYP and the PYY genes arose from an initial gene duplication event, with a subsequent tandem duplication of the PYY gene being responsible for the creation of the PPY gene. A second weaker hybridization signal also found on chromosome 17q11 and results obtained by Southern blot analysis suggest that the entire PYY-PPY region has undergone a further duplication event. 27 refs., 5 figs.

  13. Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder

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    Rajkumar, A.P.; Christensen, Jane H.; Mattheisen, Manuel

    2015-01-01

    OBJECTIVES: Breakpoints of chromosomal abnormalities facilitate identification of novel candidate genes for psychiatric disorders. Genome-wide significant evidence supports the linkage between chromosome 17q25.3 and bipolar disorder (BD). Co-segregation of translocation t(9;17)(q33.2;q25.......3) with psychiatric disorders has been reported. We aimed to narrow down these chromosomal breakpoint regions and to investigate the associations between single nucleotide polymorphisms within these regions and BD as well as schizophrenia (SZ) in large genome-wide association study samples. METHODS: We cross......,856) data. Genetic associations between these disorders and single nucleotide polymorphisms within these breakpoint regions were analysed by BioQ, FORGE, and RegulomeDB programmes. RESULTS: Four protein-coding genes [coding for (endonuclease V (ENDOV), neuronal pentraxin I (NPTX1), ring finger protein 213...

  14. Effects of a 17q21 chromosome gene variant, tobacco smoke and furred pets on infant wheeze

    DEFF Research Database (Denmark)

    Bräuner, E V; Loft, S; Raaschou-Nielsen, O

    2012-01-01

    investigated associations between the rs7216389 polymorphism in the 17q21 locus affecting ORMDL3 expression and the risk for recurrent wheeze and interactions with exposure to tobacco smoke and furred pets during pregnancy and infancy using a birth cohort of 101¿042 infants. Rs7216389 was significantly...... association between pets and wheeze among homozygous wild-type carriers and a negative association among homozygous variant allele carriers. There was no interaction between rs7216389 and tobacco smoke exposure....

  15. A unique de novo interstitial deletion of chromosome 17, del(17)(q23.2q24.3) in a female newborn with multiple congenital anomalies

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    Levin, M.L.; Shaffer, L.G.; Lewis, R.A. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Contiguous gene or microdeletion syndromes occurring on chromosome 17p include the Smith-Magenis and Miller-Dieker syndromes associated with interstitial deletions of 17p11.2 and 17p13.3, respectively. Other cytogenetically visible interstitial deletions on chromosome 17 are quite rare or unique. We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del(17)(q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. We have compared our patient`s phenotype and karyotype to two reported patients with deletion 17q with minor clinical overlap. The most striking clinical features of this patient were severe intrauterine growth retardation, widespread skeletal malformations (split sutures, hypoplastic acetabulae and scapulae, vertebral anomalies, and digital hypoplasia), cutis verticis gyrata, dysmorphic facial features, and oropharyngeal malformations (absent uvula and submucous cleft palate). Mild congenital heart disease and anomalous optic nerves were also present. Parental karyotyps were normal. DNA from parents and patient has been collected and cell lines established on both parents. Genes which have been previously mapped to the region that is apparently deleted in this patient include: chorionic somatomammotropin A, growth hormone (normal), acid alpha-glucosidase, apolipoprotein H, and the alpha peptide of type 4 voltage gated sodium channel. As in other clinical cytogenetic syndromes, further descriptions of patients with similar or overlapping rearrangements in this region will be necessary to delineate genotype/phenotype correlations for chromosome 17.

  16. Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot

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    Lu, W.; Bacino, C. A.; Richards, B.S.; Alvarez, C.; VanderMeer, J.E.; Vella, M.; Ahituv, N.; Sikka, N.; Dietz, F.R.; Blanton, S.H.; Hecht, J.T.

    2012-01-01

    Clubfoot is a common birth defect characterized by inward posturing and rigid downward displacement of one or both feet. The etiology of syndromic forms of clubfoot is varied and the causes of isolated clubfoot are not well understood. A microduplication of 2.2 Mb on chromosome 17q23.1q23.2 which includes T-box 4 (TBX4), a hindlimb-specific gene, and 16 other genes was recently identified in 3 of 66 families reported as nonsyndromic clubfoot, but additional non-foot malformations place them in the syndromic clubfoot category. Our study assesses whether variation in or around TBX4 contributes to nonsyndromic clubfoot. To determine whether this microduplication was a common cause of nonsyndromic clubfoot, 605 probands (from 148 multiplex and 457 simplex families) with nonsyndromic clubfoot were evaluated by copy number and oligonucleotide array CGH testing modalities. Only one multiplex family (0.68%) that had 16 with clubfoot and 9 with other foot anomalies, had a 350kb microduplication, which included the complete duplication of TBX4 and NACA2 and partial duplication of BRIP1. The microduplication was transmitted in an autosomal dominant pattern and all with the microduplication had a range of phenotypes from short wide feet and toes to bilateral clubfoot. Minimal evidence was found for an association between TBX4 and clubfoot and no pathogenic sequence variants were identified in the two known TBX4 hindlimb enhancer elements. Altogether, these results demonstrate that variation in and around the TBX4 gene and the 17q23.1q23.2 microduplication are not a frequent cause of this common orthopedic birth defect and narrows the 17q23.1q23.2 nonsyndromic clubfoot-associated region. PMID:22678995

  17. High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.

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    Strom, S P; Stone, J L; Ten Bosch, J R; Merriman, B; Cantor, R M; Geschwind, D H; Nelson, S F

    2010-10-01

    Chromosome 17q11-q21 is a region of the genome likely to harbor susceptibility to autism (MIM(209850)) based on earlier evidence of linkage to the disorder. This linkage is specific to multiplex pedigrees containing only male probands (MO) within the Autism Genetic Resource Exchange (AGRE). Earlier, Stone et al.(1) completed a high-density single nucleotide polymorphism association study of 13.7 Mb within this interval, but common variant association was not sufficient to account for the linkage signal. Here, we extend this single nucleotide polymorphism-based association study to complete the coverage of the two-LOD support interval around the chromosome 17q linkage peak by testing the majority of common alleles in 284 MO trios. Markers within an interval containing the gene, CACNA1G, were found to be associated with Autism Spectrum Disorder at a locally significant level (P=1.9 × 10(-5)). While establishing CACNA1G as a novel candidate gene for autism, these alleles do not contribute a sufficient genetic effect to explain the observed linkage, indicating that there is substantial genetic heterogeneity despite the clear linkage signal. The region thus likely harbors a combination of multiple common and rare alleles contributing to the genetic risk. These data, along with earlier studies of chromosomes 5 and 7q3, suggest few if any major common risk alleles account for Autism Spectrum Disorder risk under major linkage peaks in the AGRE sample. This provides important evidence for strategies to identify Autism Spectrum Disorder genes, suggesting that they should focus on identifying rare variants and common variants of small effect.

  18. Co-regulation analysis of closely linked genes identifies a highly recurrent gain on chromosome 17q25.3 in prostate cancer

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    Martínez-A Carlos

    2008-10-01

    Full Text Available Abstract Background Transcriptional profiling of prostate cancer (PC has unveiled new markers of neoplasia and allowed insights into mechanisms underlying this disease. Genomewide analyses have also identified new chromosomal abnormalities associated with PC. The combination of both classes of data for the same sample cohort might provide better criteria for identifying relevant factors involved in neoplasia. Here we describe transcriptional signatures identifying distinct normal and tumoral prostate tissue compartments, and the inference and demonstration of a new, highly recurrent copy number gain on chromosome 17q25.3. Methods We have applied transcriptional profiling to tumoral and non-tumoral prostate samples with relatively homogeneous epithelial representations as well as pure stromal tissue from peripheral prostate and cultured cell lines, followed by quantitative RT-PCR validations and immunohistochemical analysis. In addition, we have performed in silico colocalization analysis of co-regulated genes and validation by fluorescent in situ hybridization (FISH. Results The transcriptomic analysis has allowed us to identify signatures corresponding to non-tumoral luminal and tumoral epithelium, basal epithelial cells, and prostate stromal tissue. In addition, in silico analysis of co-regulated expression of physically linked genes has allowed us to predict the occurrence of a copy number gain at chromosomal region 17q25.3. This computational inference was validated by fluorescent in situ hybridization, which showed gains in this region in over 65% of primary and metastatic tumoral samples. Conclusion Our approach permits to directly link gene copy number variations with transcript co-regulation in association with neoplastic states. Therefore, transcriptomic studies of carefully selected samples can unveil new diagnostic markers and transcriptional signatures highly specific of PC, and lead to the discovery of novel genomic abnormalities

  19. EEFSEC基因、染色体17 q24和染色体11 q13.2基因变异与前列腺癌的关联研究%A correlation study between EEFSEC gene, chromosome 17q24, chromosome 11q13.2 and prostate cancer(

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    李星慧; 张政; 张毓洪; 王建业; 魏东; 张耀光; 杨泽

    2015-01-01

    Objectives To explore the association between the variations of EEFSEC gene ( rs10934853, A), chromosome 17q24(rs1859962,T) and chromosome 11q13.2 (rs7931342,T) and prostate cancer (Pca) risk in Chinese population in Beijing , and to understand the relationship between genotypes and phenotypes including clinical characteristics and life style , etc.in patients with prostate cancer .Methods Based on a case-control study , 124 patients with prostate cancer and 138 age-matched control sub-jects were recruited.Information of clinical phenotype and life style , etc.in the prostate cancer patients was collected .We com-pared the differences of allele and genotype frequencies of EEFSEC gene (rs10934853, A), chromosome 17q24(rs1859962,T) and chromosome 11q13.2 (rs7931342,T) between the two groups and explored the relationship between different genotypes and clinical features such as age , BMI, Gleason score, PSA level and tumor stage , by Fisher’s exact test and Chi-square test in patients with PCa.Multifactor dimensionality reduction was used to detect the gene-gene interactions .Results There was no obverse distribution of difference in those three SNPS ’ allele or genotype frequency or three kinds of haplotype that composed of EEFSEC gene (rs10934853, A), chromosome 17q24(rs1859962,T) and chromosome 11q13.2 (rs7931342,T) between case and control groups (P>0.05).Analysis showed that chromosome 17q24(rs1859962,T) genotype frequency distribution was correlated eating eggs (P=0.005).Conclusions There is no obvious association of EEFSEC gene (rs10934853, A), chromosome 17q24(rs1859962,T) and chromosome 11q13.2 (rs7931342,T) with PCa in our sample.They may not be genetic risk factors of PCa in Beijing Chinese population.%目的:探索EEFSEC基因(rs10934853,A)、染色体17q24区(rs1859962,T)和染色体11q13.2(rs7931342,T)的基因变异类型与前列腺癌患病发病风险的关联,分析这些基因型与前列腺癌患者临床特征的关

  20. An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

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    Bouhouche Ahmed

    2012-03-01

    Full Text Available Abstract Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. Methods All family members underwent neurological and radiological examinations. A genome wide search was conducted in this family using the ABI PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate genes within the region linked to the disease were screened for mutations by direct sequencing. Results Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis of recombination events and LOD score calculation suggests linkage of the responsible gene in a genetic interval of 11 Mb located between D17S789 and D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and GRIN2C, identified three missense mutations in the FDXR gene which were also found in a homozygous state in three healthy controls, suggesting that these variants are not disease-causing mutations in the family. Conclusion A novel locus for leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 17q24.2-25.3 in a consanguineous Moroccan family.

  1. Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q

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    Thomas, J.; Prescott, K.; Milner, R. [Univ. of Colorado School of Medicine, Denver, CO (United States)] [and others

    1994-09-01

    Syndromic craniosynostosis is frequently associated with skeletal abnormalities, but the biological basis for this association is unclear. Molecular genetic studies have the biological basis for this association is unclear. Molecular genetic studies have identified a number of loci and at least one candidate gene, the MSX2 gene. We recently encountered a 9 y.o. boy with moderate mental retardation, congenital craniosynostosis, and multiple skeletal anomalies. Physical features strongly suggested Hunter-McAlpine syndrome (HMS). Specifically, he had triangular facies with a small mouth prominent chin, bulbous nose, thin vermillion border, malaligned and malformed teeth, and low set, rudimentary ears. Skeletal features included: bilambdoidal, bicoronal, and sagittal craniosynostosis; right preaxial polydactyly; bilateral talipes; coxa valga; genu valgum; bilateral fusion of the hamate and capitate; scoliosis; and small, irregular middle phalangeal epiphyses. High resolution chromosome analysis revealed an interstitial deletion of G negative material of subbands q23.1{r_arrow}23.3 or q23.3{r_arrow}q24.2 of a No. 17 homologue. HMS, a presumed autosomal dominant disorder associated with characteristic facies, variable degrees of mental retardation, craniosynostosis, and minor acral-skeletal anomalies, proved to be the most likely explanation for this patient`s findings. We propose that our patient has a new mutation for HMS with more severe skeletal involvement than previously reported. Linkage studies are in progress to test the hypothesis that familial HMS may be localized to chromosome 17.

  2. Isochromosome 17q in Chronic Lymphocytic Leukemia

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    Eyad Alhourani

    2015-01-01

    Full Text Available In chronic lymphocytic leukemia (CLL, presence of acquired cytogenetic abnormalities may help to estimate prognosis. However, deletion of TP53 gene, which is associated with an aggressive course of the disease and poor prognosis along with a lack of response to treatment, is one of the alterations which may escape cytogenetic diagnoses in CLL. Thus, other techniques have emerged such as interphase fluorescence in situ hybridization (iFISH. Deletion of TP53 may but must not go together with the formation of an isochromosome i(17q; surprisingly this subgroup of patients was not in the focus of CLL studies yet. This study was about if presence of i(17q could be indicative for a new subgroup in CLL with more adverse prognosis. As a result, TP53 deletion was detected in 18 out of 150 (12% here studied CLL cases. Six of those cases (~33% had the TP53 deletion accompanied by an i(17q. Interestingly, the cases with i(17q showed a tendency towards more associated chromosomal aberrations. These findings may be the bases for follow-up studies in CLL patients with TP53 deletion with and without i(17q; it may be suggested that the i(17q presents an even more adverse prognostic marker than TP53 deletion alone.

  3. Localization of the human RNA polymerase I transcription factor gene (UBTF) to the D17S183 locus on chromosome 17q21 and construction of a long-range restriction map of the region

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    Jones, K.A.; Black, D.M.; Griffiths, B.L.; Solomon, E. [Somatic Cell Genetics Lab., London (United Kingdom)

    1995-12-10

    Human upstream binding factor (hUBF) is a sequence-specific DNA-binding protein that is essential for the activation of human 18s and 28s rRNA gene transcription. We have isolated and localized the gene (UBTF) encoding hUBF to the D17S183 locus on chromosome 17q21 by analyzing a cosmid from the region and carrying out Southern analysis on a previously constructed chromosome 17 somatic cell hybrid mapping panel using a probe from the hUBF cDNA. Confirmation of its location at this region was obtained from the results of pulsed-field gel electrophoresis analysis of genomic DNA using the hUBF cDNA and other probes from the region. These data also enabled the construction of a long-range restriction map of the region. 13 refs., 2 figs., 1 tab.

  4. A novel human gene (SARM) at chromosome 17q11 encodes a protein with a SAM motif and structural similarity to Armadillo/beta-catenin that is conserved in mouse, Drosophila, and Caenorhabditis elegans.

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    Mink, M; Fogelgren, B; Olszewski, K; Maroy, P; Csiszar, K

    2001-06-01

    A novel human gene, SARM, encodes the orthologue of a Drosophila protein (CG7915) and contains a unique combination of the sterile alpha (SAM) and the HEAT/Armadillo motifs. The SARM gene was identified on chromosome 17q11, between markers D17S783 and D17S841 on BAC clone AC002094, which also included a HERV repeat and keratin-18-like, MAC30, TNFAIP1, HSPC017, and vitronectin genes in addition to three unknown genes. The mouse SARM gene was located on a mouse chromosome 11 BAC clone (AC002324). The SARM gene is 1.8 kb centromeric to the vitronectin gene, and the two genes share a promoter region that directs a high level of liver-specific expression of both the SARM and the vitronectin genes. In addition to the liver, the SARM gene was highly expressed in the kidney. A 0.4-kb antisense transcript was coordinately expressed with the SARM gene in the kidney and liver, while in the brain and malignant cell lines, it appeared independent of SARM gene transcription. The SARM gene encodes a protein of 690 amino acids. Based on amino acid sequence homology, we have identified a SAM motif within this derived protein. Structure modeling and protein folding recognition studies confirmed the presence of alpha-alpha right-handed superhelix-like folds consistent with the structure of the Armadillo and HEAT repeats of the beta-catenin and importin protein families. Both motifs are known to be involved in protein-protein interactions promoting the formation of diverse protein complexes. We have identified the same conserved SAM/Armadillo motif combination in the mouse, Drosophila, and Caenorhabditis elegans SARM proteins. Copyright 2001 Academic Press.

  5. Recurrent duplications of 17q12 associated with variable phenotypes

    DEFF Research Database (Denmark)

    Mitchell, Elyse; Douglas, Andrew; Kjaegaard, Susanne

    2015-01-01

    The ability to identify the clinical nature of the recurrent duplication of chromosome 17q12 has been limited by its rarity and the diverse range of phenotypes associated with this genomic change. In order to further define the clinical features of affected patients, detailed clinical information...

  6. MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cystein domain.

    Science.gov (United States)

    Katoh, Masuko; Katoh, Masaru

    2003-06-01

    MYC, ERBB2, MET, FGFR2, CCNE1, MYCN, WNT2, CD44, MDM2, NCOA3, IQGAP1 and STK6 loci are amplified in human gastric cancer. It has been reported that the gene corresponding to EST H16094 is co-amplified with ERBB2 gene in human gastric cancer. Here, we identified and characterized the gene corresponding to EST H16094 by using bioinformatics. BLAST programs revealed that EST H16094 was derived from the uncharacterized MGC9753 gene. Two ORFs were predicted within human MGC9753 mRNA, and ORF1 (nucleotide position 18-980 of NM_033419.1) was predicted as the coding region of human MGC9753 mRNA based on comparative genomics. Nucleotide sequence of mouse Mgc9753 mRNA was next determined in silico by modification of AK052486 cDNA (deleting C at the nucleotide position 37). Human MGC9753 and mouse Mgc9753 proteins were 320-amino-acid seven-transmembrane receptors with the N-terminal six-cysteine domain and an N-glycosylation site (85.0% total-amino-acid identity). Human MGC9753 protein showed 90.6% total-amino-acid identity with human CAB2 aberrant protein, which lacked the third-transmembrane domain of MGC9753 due to frame shifts within ORF. Human MGC9753 gene, consisting of eight exons, were clustered with PPP1R1B, STARD3, TCAP, PNMT, ERBB2, MGC14832 and GRB7 genes within the 120-kb region. PPP1R1B, STARD3, MGC9753, ERBB2 and GRB7 genes are co-amplified in several cases of gastric cancer. This is the first report on comprehensive characterization of the amplicon around the PPP1R1B-STARD3-TCAP-PNMT-MGC9753-ERBB2-MGC14832-GRB7 locus on human chromosome 17q12.

  7. Acute Promyelocytic Leukemia with i(17)(q10)

    Science.gov (United States)

    Inamura, Junki; Ikuta, Katsuya; Tsukada, Nodoka; Hosoki, Takaaki; Shindo, Motohiro; Sato, Kazuya

    2016-01-01

    We herein report a rare chromosomal abnormality observed in an acute promyelocytic leukemia (APL) patient. She had several APL derivative clones including a clone with i(17)(q10) abnormality, which consists of two kinds of structural abnormalities, a cryptic translocation of t(15;17) and an isochromosome of 17q. Although an obvious microscopic t(15;17) change was not observed on either arms of the isochromosome, PML/RARα fusion signals were detected on an interphase fluorescence in situ hybridization analysis. By several cytogenetic analyses of her bone marrow cells, it was confirmed that the i(17)(q10) clone was derived from the classic t(15;17) clone via another intervening clone, cryptic t(15;17). PMID:27853080

  8. De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency.

    Science.gov (United States)

    Brisset, Sophie; Kasakyan, Serdar; L'Herminé, Aurore Coulomb; Mairovitz, Valérie; Gautier, Evelyne; Aubry, Marie-Cécile; Benkhalifa, Moncef; Tachdjian, Gérard

    2006-03-01

    Increased nuchal translucency (NT) during the first trimester of pregnancy is a useful marker to detect chromosomal abnormalities. Here, we report a prenatal case with molecular cytogenetic characterisation of an abnormal derivative chromosome 9 identified through NT. Amniocentesis was performed because of an increased NT (4.4 mm) and showed an abnormal de novo 46,XX,add(9)(p24.3) karyotype. To characterise the origin of the small additional material on 9p, we performed a microarray comparative genomic hybridisation (microarray CGH) using a genomic DNA array providing an average of 1 Mb resolution. Microarray CGH showed a deletion of distal 9p and a trisomy of distal 17q. These results were confirmed by FISH analyses. Microarray CGH provided accurate information on the breakpoint regions and the size of both distal 9p deletion and distal 17q trisomy. The fetus was therefore a carrier of a de novo derivative chromosome 9 arising from a t(9;17)(p24.3;q24.3) translocation and generating a monosomy 9p24.3-pter and a trisomy 17q24.3-qter. This case illustrates that microarray CGH is a rapid, powerful and sensitive technology to identify small de novo unbalanced chromosomal abnormalities and can be applied in prenatal diagnosis. 2006 John Wiley & Sons, Ltd.

  9. Brief clinical report: an infant with duplication of 17q21 lead to 17qter.

    Science.gov (United States)

    Gallien, J U; Neu, R L; Wynn, R J; Steinberg-Warren, N; Bannerman, R M

    1981-01-01

    Duplication of the distal part of 17q has been reported in 4 patients [1,2]. We are reporting clinical, autopsy, and cytogenetic data on an additional patient whose condition was due to a familial translocation in which the patient's chromosome constitution is 46,XX, der(4),t(4;17)(p16;q21) pat. The phenotype of the five known patients with this duplication is very similar, and their manifestations are distinct enough to be clinically recognizable. Abnormalities common to all five patients are severe growth impairment, craniofacial anomalies with severe hypertelorism, frontal bossing and temporal narrowness, a widow's peak, narrow palpebral fissures, a thin upper lip overlapping a thin lower lip with down-turned corners of the mouth, micrognathia, apparently low-set and deformed ears, short webbed neck, and hyperlaxity of the limbs.

  10. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

    OpenAIRE

    Koolen, D. A.; Sharp, A J; Hurst, J A; Firth, H. V.; Knight, S J L; Goldenberg, A.; Saugier--Veber, P.; Pfundt, R.; Vissers, L E L M; Destree, A; Grisart, B; Rooms, L; Aa, N. van der; Field, M.; Hackett, A.

    2008-01-01

    Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. Aim: We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. Results: We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that de...

  11. A stable acentric marker chromosome: Possible existence of an intercalary ancient centromere at distal 8p

    Energy Technology Data Exchange (ETDEWEB)

    Ohashi, Hirofumi; Fukushima, Yoshimitsu; Wakui, Keiko; Ogawa, Kioyshi [Saitama Children`s Medical Center, Iwatsuki (Japan); Okano, Tetsuroh [Kitazato Univ., Tokyo (Japan); Niikawa, Norio [Nagasaki Univ. School of Medicine (Japan)

    1994-12-01

    A centromere is considered to be an essential chromosomal component where microtubule-kinetochore interaction occurs to segregate sister chromatids faithfully and acentric chromosomes are unstable and lost through cell divisions. We report a novel marker chromosome that was acentric but stable through cell divisions. The patient was a 2-year-old girl with mental retardation, patent ductus arteriosus, and mild dysmorphic features. G-banded chromosome analysis revealed that an additional small marker chromosome was observed in all 100 cells examined. By the reverse-chromosome-painting method, the marker was found to originate from the distal region of 8p, and a subsequent two-color FISH analysis with cosmid probes around the region revealed that the marker was an inverted duplication interpreted as 8pter {yields} p23.1::p23.1 {yields} 8pter. No centromeric region was involved in the marker. By FISH, no {alpha}-satellite sequence was detected on the marker, while a telomere sequence was detected at each end. Anti-kinetochore immunostaining, using a serum from a patient with CREST (calcinosis, Raynaud syndrome, esophageal dismotility, sclerodactyly, and telangiectasia) syndrome, showed a pair of signals on the marker, which indicated that a functional kinetochore was present on the marker. The analysis of this patient might suggest the possibility that an ancient centromere sequence exists at distal 8p (8p23.1-pter) and was activated through the chromosome rearrangement in the patient.

  12. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

    NARCIS (Netherlands)

    Koolen, D.A.; Sharp, A.J.; Hurst, J.A.; Firth, H.V.; Knight, S.J.; Goldenberg, A.; Saugier-Veber, P.; Pfundt, R.P.; Vissers, L.E.L.M.; Destree, A.; Grisart, B.; Rooms, L.; Aa, N. van der; Field, M.; Hackett, A.; Bell, K.; Nowaczyk, M.J.; Mancini, G.M.; Poddighe, P.J.; Schwartz, C.E.; Rossi, E.; Gregori, M. de; Antonacci-Fulton, L.L.; McLellan, MD2nd; Garrett, J.M.; Wiechert, M.A.; Miner, T.L.; Crosby, S.; Ciccone, R.; Willatt, L.; Rauch, A.; Zenker, M.; Aradhya, S.; Manning, M.A.; Strom, T.M.; Wagenstaller, J.; Krepischi-Santos, A.C.; Vianna-Morgante, A.M.; Rosenberg, C.; Price, S.M.; Stewart, H.; Shaw-Smith, C.; Brunner, H.G.; Wilkie, A.O.; Veltman, J.A.; Zuffardi, O.; Eichler, E.E.; Vries, L.B.A. de

    2008-01-01

    BACKGROUND: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. AIM: We report the molecular and/or clinical characterisation of 22 individuals with the 1

  13. Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting.

    Science.gov (United States)

    Abuelo, D N; Ahsanuddin, A N; Mark, H F

    2000-10-23

    We describe the case of a 13-year-old girl with an apparently de novo unbalanced translocation resulting in the presence of additional chromosomal material on the short arm of one X chromosome, which was detected by conventional G-banding studies. Fluorescence in situ hybridization (FISH) using the Chromoprobe Multiprobe-M protocol confirmed that the additional chromosomal material originated from chromosome 5. The karyotype of this patient is now established to be 46,X,der(X) t(X;5)(p22.3;q33), with a deletion of Xp22.3-pter and partial trisomy of 5q33-qter. The distal 5q trisomy genotype has been associated with clinical signs that include growth and mental retardation, eczema, craniofacial anomalies, and malformations of heart, lungs, abdomen, limbs, and genitalia. Our patient also has short stature, a prominent nasal bridge, a flat philtrum, a thin upper lip, dental caries, and limb and cardiac malformations, but she appears to be mildly affected compared with previously reported cases. This is the first case of distal 5q trisomy arising from a translocation with the X chromosome. Replication studies on this patient show that the derivative t(X;5) chromosome is late replicating in almost all cells examined, which indicates that this chromosome is preferentially inactivated. However, the translocated segment of chromosome 5 appears to be early replicating, which implies that the trisomic 5q segment is transcriptionally active. We cannot determine from these studies whether all or only some genes in this segment are expressed, but this patient's relatively mild clinical signs suggest that the critical region(s) that contribute to the distal 5q trisomy phenotype are at least partly suppressed. A review of other patients with X-chromosome translocations indicates that many but not all of them also have attenuated phenotypes. The mechanism of inactivation of autosomal material attached to the X chromosome is complex, with varying effects on the phenotype of the

  14. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

    Energy Technology Data Exchange (ETDEWEB)

    Ballabio, A.; Andria, G. (Univ. of Reggio Calabria, Catanzaro (Italy)); Bardoni, B.; Fraccaro, M.; Maraschio, P.; Zuffardi, O.; Guioli, S.; Camerino, G. (Univ. of Pavia (Italy)); Carrozzo, R. (Univ. of Naples (Italy)); Bick, D.; Campbell, L. (Univ. of Texas, San Antonio (USA)); Hamel, B. (Univ. of Nijmegen (Netherlands)); Ferguson-Smith, M.A. (Univ. of Cambridge (England)); Gimelli, G. (G. Gaslini Institute, Genoa (Italy))

    1989-12-01

    Mendelian inherited disorders to deletions of adjacent genes on a chromosome have been described as contiguous gene syndromes. Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combination in 27 patients with interstitial and terminal deletions involving the distal short are of the X chromosome. The use of cDNA and genomic probes from the Xp22-pter region allowed us to identify 12 different deletion intervals and to confirm, and further refine, the chromosomal assignment of X-linked recessive chondrodysplasia punctata and Kallmann syndrome genes. A putative pseudoautosomal gene affecting height and an X-linked nonspecific mental retardation gene have been tentatively assigned to specific intervals. The deletion panel described is a useful tool for mapping new sequences and orienting chromosome walks in the region.

  15. Complex autism spectrum disorder in a patient with a 17q12 microduplication.

    Science.gov (United States)

    Brandt, Tracy; Desai, Khyati; Grodberg, David; Mehta, Lakshmi; Cohen, Ninette; Tryfon, Ana; Kolevzon, Alexander; Soorya, Latha; Buxbaum, Joseph D; Edelmann, Lisa

    2012-05-01

    Autism spectrum disorders (ASDs) are phenotypically complex developmental neuropsychiatric disorders affecting approximately 0.6% of the population. About 30-70% of affected children are also considered to have intellectual disability (ID). The underlying genetic causes of ASDs are diverse with a defined etiology in 16-20%. Array comparative genomic hybridization (aCGH) has proven useful in identifying sub-microscopic chromosome aberrations in a subset of patients, some of which have been shown to be recurrent. One such aberration is the 1.4 Mb microdeletion at chromosome 17q12, which has been reported to be associated with renal disease, growth restriction, diabetes, cognitive impairment, seizures, and in some cases an ASD. Patients with the reciprocal chromosome 17q12 microduplication typically have also been identified with ID and in some cases seizures and behavioral abnormalities. Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism. To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.

  16. Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

    Directory of Open Access Journals (Sweden)

    Jennifer L. Roberts

    2014-01-01

    Full Text Available Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3 cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400 K array-based comparative genomic hybridization (aCGH + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband’s phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient’s unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations.

  17. Complex Phenotype Associated with 17q21.31 Microdeletion

    Science.gov (United States)

    Dornelles-Wawruk, H.; Pic-Taylor, A.; Rosenberg, C.; Krepischi, A.C.V.; Safatle, H.P.N.; Ferrari, I.; Mazzeu, J.F.

    2013-01-01

    We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other clinical signs which have rarely or never been described to date. The detected 695-kb 17q21.31 deletion is larger than in most previously reported cases but is still probably the result of recombination between flanking low-copy repeats. Due to the complexity of the patient's clinical condition, together with the presence of 3 previously unreported symptoms, namely chronic anemia, cervical vertebrae arthrosis and vertebrae fusion, this case is an important addition to the existing knowledge about the 17q21.31 microdeletion syndrome. PMID:24167466

  18. A sequence variant on 17q21 is associated with age at onset and severity of asthma

    NARCIS (Netherlands)

    Halapi, Eva; Gudbjartsson, Daniel F; Jonsdottir, Gudrun M; Bjornsdottir, Unnur S; Thorleifsson, Gudmar; Helgadottir, Hafdis; Williams, Carolyn; Koppelman, Gerard H; Heinzmann, Andrea; Boezen, Hendrika; Jonasdottir, Aslaug; Blondal, Thorarinn; Gudjonsson, Sigurjon A; Jonasdottir, Adalbjorg; Thorlacius, Theodora; Henry, Amanda P; Altmueller, Janine; Krueger, Marcus; Shin, Hyoung Doo; Uh, Soo-Taek; Cheong, Hyun Sub; Jonsdottir, Brynja; Ludviksson, Bjorn R; Ludviksdottir, Dora; Gislason, David; Park, Choon-Sik; Deichmann, Klaus; Thompson, Philip J; Wjst, Matthias; Hall, Ian P; Postma, Dirkje S; Gislason, Thorarinn; Kong, Augustine; Jonsdottir, Ingileif; Thorsteinsdottir, Unnur; Stefansson, Kari

    A sequence variant (rs7216389-T) near the ORMDL3 gene on chromosome 17q21 was recently found to be associated with childhood asthma. We sought to evaluate the effect of rs7216389-T on asthma subphenotypes and its correlation with expression levels of neighboring genes. The association of rs7216389-T

  19. A gene for distal arthrogryposis Type I maps to the pericentromeric region of chromosome 9

    Energy Technology Data Exchange (ETDEWEB)

    Bamshad, M.; Watkins, W.S.; Zenger, R.K.; Bohnsack, J.F.; Carey, J.C.; Otterud, B.; Krakowiak, P.A.; Robertson, M.; Jorde, L.B. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States)

    1994-12-01

    Club foot is one of the most common human congenital malformations. Distal arthrogryposis type I (DA-1) is a frequent cause of dominantly inherited club foot. Performing a genomewide search using short tandem repeat (STR) polymorphisms, we have mapped a DA-1 gene to the pericentromeric region of chromosome 9 in a large kindred. Linkage analysis has generated a positive lod score of 5.90 at {theta} = 0, with the marker GS-4. Multiple recombinants bracketing the region have been identified. Analysis of an additional family demonstrated no linkage to the same locus, indicating likely locus heterogeneity. Of the autosomal congenital contracture disorders causing positional foot deformities, this is the first to be mapped.

  20. Localization of the tight junction protein gene TJP1 to human chromosome 15q13, distal to the Prader-Willi/Angelman region, and to mouse chromosome 7

    Energy Technology Data Exchange (ETDEWEB)

    Mohandas, T.K. [Darthmouth-Hitchcock Medical Center, Lebanon, NH (United States); Chen, X.N.; Korenberg, J.R. [UCLA School of Medicine, Los Angeles, CA (United States)] [and others

    1995-12-10

    The gene encoding the tight junction (zonula occludens) protein, TJP1, was mapped to human chromosome 15q13 by fluorescence in situ hybridization (FISH) using a cDNA probe. The Jackson Laboratory backcross DNA panel derived from the cross (C57BL/6JEi X SPRET/Ei) F1 females X SPRET/Ei males was used to map the mouse Tjp1 to chromosome 7 near position 30 on the Chromosome Committee Map, a region with conserved homology to human chromosome 15q13. FISH studies on metaphases from patients with the Prader-Willi (PWS) or the Angelman syndrome (AS) showed that TJP1 maps close but distal to the PWS/AS chromosome region. 13 refs., 2 figs.

  1. A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy

    Directory of Open Access Journals (Sweden)

    Hinkes Bernward

    2012-05-01

    Full Text Available Abstract Background Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH, which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder. Repeatedly she suffered from kidney transplant failure caused by consuming membranous nephropathy. Case presentation A 38-year-old female patient had been diagnosed with right kidney aplasia, left kidney dysplasia and significantly impaired renal function during infancy. Aged 16 she had to start hemodialysis. Three years later she received her first kidney transplant. Only then she was diagnosed with MRKH. The kidney transplant was lost due to consuming nephrotic syndrome caused by de novo membranous nephropathy, as was a second kidney transplant years later. In addition, a hyperelasticity syndrome affects the patient with congenital joint laxity, kyphoscoliosis, bilateral hip dysplasia, persistent hypermobility of both elbows, knees and hips. Her clinical picture resembles a combination of traits of a hypermobile and a vascular form of Ehlers-Danlos-Syndrome, but no mutations in the COL3A1 gene was underlying. Instead, array-based comparative genomic hybridisation (CGH detected a heterozygous 1.43 Mb deletion on chromosome 17q12 encompassing the two renal developmental genes HNF1β and LHX1. Conclusions Deletions of HNF1β have recently drawn significant attention in pediatric nephrology as an important cause of prenatally hyperechogenic kidneys, renal aplasia and renal hypodysplasia. In contrast, membranous nephropathy represents an often-unaccounted cause of nephrotic syndrome in the adult population. A causative connection between theses two conditions has never been postulated, but

  2. Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly.

    Science.gov (United States)

    Naud, Marie-Emmanuelle; Tosca, Lucie; Martinovic, Jelena; Saada, Julien; Métay, Corinne; Drévillon, Loïc; Benoit, Virginie; Brisset, Sophie; Tachdjian, Gérard

    2017-01-01

    Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24.1q24.2 deletion.

  3. Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

    Directory of Open Access Journals (Sweden)

    Marie-Emmanuelle Naud

    2017-01-01

    Full Text Available Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24.1q24.2 deletion.

  4. Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

    Science.gov (United States)

    Lebre, Anne-Sophie; Morinière, Vincent; Dunand, Olivier; Bensman, Albert; Morichon-Delvallez, Nicole; Antignac, Corinne

    2009-01-01

    We report maternal uniparental disomy of chromosome 17 (mat UPD17) in a 2.5-year-old girl presenting infantile cystinosis. This patient was homozygous for the 57 kb deletion encompassing the CTNS gene, frequently found in patients from the European origin. The proband's mother was heterozygous for the deletion and the father did not carry the deletion. We carried out haplotype analysis with polymorphic markers spanning the whole chromosome 17. Informative markers showed the presence of two maternal alleles but no paternal allele for regions spanning the 17q arm and the proximal half of 17p, and only one maternal allele on the distal 17p arm. As deletion of half of 17p is probably not viable, these results suggest mat UPD17 with heterodisomy of 17q and proximal 17p and isodisomy of distal 17p. This is the first demonstration of mat UPD17, in particular of isodisomy 17p, in cystinosis. PMID:19259134

  5. Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

    OpenAIRE

    Rachel O'Connor; Amel Al-Murrani; Salim Aftimos; Philip Asquith; Roberto Mazzaschi; Dominique Eyrolle-Guignot; George, Alice M.; Love, Donald R.

    2011-01-01

    This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenomenon, and fine mapping of the involved region, as described here, is only a first step on the path to...

  6. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH syndrome: two case reports

    Directory of Open Access Journals (Sweden)

    Novelli Antonio

    2009-11-01

    Full Text Available Abstract Background Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. Methods and Results we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12. One patient was affected by complete absence of uterus and vagina, with bilaterally normal ovaries, while the other displayed agenesis of the upper part of vagina, right unicornuate uterus, non cavitating rudimentary left horn and bilaterally multicystic kidneys. The deletion encompassed two candidate genes, TCF2 and LHX1. Mutational screening of these genes in a selected group of 20 MRKH females without 17q12 deletion was negative. Conclusion Deletion 17q12 is a rare albeit recurrent anomaly mediated by segmental duplications, previously reported in subjects with developmental kidney abnormalities and diabetes. The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects.

  7. 17q25 Locus is associated with white matter hyperintensity volume in ischemic stroke, but not with lacunar stroke status.

    Science.gov (United States)

    Adib-Samii, Poneh; Rost, Natalia; Traylor, Matthew; Devan, William; Biffi, Alessandro; Lanfranconi, Silvia; Fitzpatrick, Kaitlin; Bevan, Steve; Kanakis, Allison; Valant, Valerie; Gschwendtner, Andreas; Malik, Rainer; Richie, Alexa; Gamble, Dale; Segal, Helen; Parati, Eugenio A; Ciusani, Emilio; Holliday, Elizabeth G; Maguire, Jane; Wardlaw, Joanna; Worrall, Bradford; Bis, Joshua; Wiggins, Kerri L; Longstreth, Will; Kittner, Steve J; Cheng, Yu-Ching; Mosley, Thomas; Falcone, Guido J; Furie, Karen L; Leiva-Salinas, Carlos; Lau, Benison C; Saleem Khan, Muhammed; Sharma, Pankaj; Fornage, Myriam; Mitchell, Braxton D; Psaty, Bruce M; Sudlow, Cathie; Levi, Christopher; Boncoraglio, Giorgio B; Rothwell, Peter M; Meschia, James; Dichgans, Martin; Rosand, Jonathan; Markus, Hugh S

    2013-06-01

    Recently, a novel locus at 17q25 was associated with white matter hyperintensities (WMH) on MRI in stroke-free individuals. We aimed to replicate the association with WMH volume (WMHV) in patients with ischemic stroke. If the association acts by promoting a small vessel arteriopathy, it might be expected to also associate with lacunar stroke. We quantified WMH on MRI in the stroke-free hemisphere of 2588 ischemic stroke cases. Association between WMHV and 6 single-nucleotide polymorphisms at chromosome 17q25 was assessed by linear regression. These single-nucleotide polymorphisms were also investigated for association with lacunar stroke in 1854 cases and 51 939 stroke-free controls from METASTROKE. Meta-analyses with previous reports and a genetic risk score approach were applied to identify other novel WMHV risk variants and uncover shared genetic contributions to WMHV in community participants without stroke and ischemic stroke. Single-nucleotide polymorphisms at 17q25 were associated with WMHV in ischemic stroke, the most significant being rs9894383 (P=0.0006). In contrast, there was no association between any single-nucleotide polymorphism and lacunar stroke. A genetic risk score analysis revealed further genetic components to WMHV shared between community participants without stroke and ischemic stroke. This study provides support for an association between the 17q25 locus and WMH. In contrast, it is not associated with lacunar stroke, suggesting that the association does not act by promoting small-vessel arteriopathy or the same arteriopathy responsible for lacunar infarction.

  8. Sex- and age-dependent DNA methylation at the 17q12-q21 locus associated with childhood asthma.

    Science.gov (United States)

    Naumova, Anna K; Al Tuwaijri, Abeer; Morin, Andréanne; Vaillancourt, Vanessa T; Vaillancout, Vanessa T; Madore, Anne-Marie; Berlivet, Soizik; Kohan-Ghadr, Hamid-Reza; Moussette, Sanny; Laprise, Catherine

    2013-07-01

    Chromosomal region 17q12-q21 is one of the best-replicated genome-wide association study (GWAS) hits and associated with childhood-onset asthma. However, the mechanism by which the genetic association is restricted to childhood-onset disease is unclear. During childhood, more boys than girls develop asthma. Therefore, we tested the hypothesis that the 17q12-q21 genetic association was sex-specific. Indeed, a TDT test showed that in the Saguenay-Lac-Saint-Jean familial collection, the 17q12-q21 association was significant among male, but not among female asthmatic subjects. We next hypothesized that the bias in the genetic association resulted from sex-specific and/or age-dependent DNA methylation at regulatory regions and determined the methylation profiles of five 17q12-q21 gene promoters using the bisulfite sequencing methylation assay. We identified a single regulatory region within the zona pellucida binding protein 2 (ZPBP2) gene, which showed statistically significant differences between males and females with respect to DNA methylation. DNA methylation also varied with age and was higher in adult males compared to boys. We have recently identified two functionally important polymorphisms, both within the ZPBP2 gene that influence expression levels of neighboring genes. Combined with the results of the present work, these data converge pointing to the same 5 kb region within the ZPBP2 gene as a critical region for both gene expression regulation and predisposition to asthma. Our data show that sex- and age-dependent DNA methylation may act as a modifier of genetic effects and influence the results of genetic association studies.

  9. 17q21.31 microduplication patients are characterized by behavioural problems and poor social interaction.

    OpenAIRE

    Grisart, Bernard; Willatt, Lionel; Destrée, Anne; Fryns, Jean-Pierre; Rack, Katrina; de Ravel, Thomy; Rosenfeld, Jill; Vermeesch, Joris Robert; Verellen-Dumoulin, Christine; Sandford, Richard

    2009-01-01

    Abstract Background: Microdeletions at 17q21.31 have recently been shown to cause a novel syndrome. Here we identify the reciprocal 17q21.31 duplication syndrome in four patients. Method: Patients with the 17q21.31 duplication were indentified by screening a large cohort of patients (n=13070) with mental retardation and congenital malformation by CGH microarray. Parental origin was investigated in three patients by quantitative PCR and microsatellite genotyping. ...

  10. Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly.

    Science.gov (United States)

    O'Connor, Rachel; Al-Murrani, Amel; Aftimos, Salim; Asquith, Philip; Mazzaschi, Roberto; Eyrolle-Guignot, Dominique; George, Alice M; Love, Donald R

    2011-01-01

    This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenomenon, and fine mapping of the involved region, as described here, is only a first step on the path to its full understanding. Overexpression of the LINGO-1 and CSPG4 genes has been implicated in developmental delay seen in other patients with trisomy of 15q24-qter, but our patient is currently too young to ascertain developmental progress. The genetic underpinning of Ebstein anomaly and the skeletal anomaly reported here is unclear based on our high-resolution dosage mapping.

  11. Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

    Directory of Open Access Journals (Sweden)

    Rachel O'Connor

    2011-01-01

    Full Text Available This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenomenon, and fine mapping of the involved region, as described here, is only a first step on the path to its full understanding. Overexpression of the LINGO-1 and CSPG4 genes has been implicated in developmental delay seen in other patients with trisomy of 15q24-qter, but our patient is currently too young to ascertain developmental progress. The genetic underpinning of Ebstein anomaly and the skeletal anomaly reported here is unclear based on our high-resolution dosage mapping.

  12. Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

    Science.gov (United States)

    Kemeny, Stéphan; Pebrel-Richard, Céline; Eymard-Pierre, Eléonore; Gay-Bellile, Mathilde; Gouas, Laetitia; Goumy, Carole; Tchirkov, Andreï; Francannet, Christine; Vago, Philippe

    2014-10-01

    High proportion of disease-associated copy number variant maps to chromosome 17. Genomic studies have provided an insight into its complex genomic structure such as relative abundance of segmental duplication and intercepted repetitive elements. 17q21.31, 17q11.2 and 17q12 loci are well known on this chromosome and are associated with microdeletion and microduplication syndrome. No syndrome associated with 17q21.33 locus have been described. We report clinical, cytogenetic and molecular investigations of a 13 years-old girl admitted for evaluation of microcephaly, scoliosis, skeletal defects and learning difficulties. We carried out detailed analysis of the clinical phenotype of this patient and investigated the genetic basis using Agilent 180K Array Comparative Genomic Hybridization. We identified a ∼0.9 Mb de novo microduplication on chromosome 17q21.33. Four genes, COL1A1, SGCA, PPP1R9B and CHAD located within the duplicated region are possible candidates for clinical features present in our patients. Gene expression studies by real-time RT-PCR assay only showed an overexpression of SGCA (P < 0.01), a component of the dystrophin glycoprotein complex. Defect of SGCA was previously shown to lead to severe childhood autosomal recessive muscular dystrophy (LGMD2D) which result in progressive muscle weakness and can also be associated with hyperlordosis or scoliosis. Further cases with similar duplications are expected to be diagnosed. This will contribute to the delineation of this potential new microduplication syndrome and to improve genetic counseling.

  13. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

    Science.gov (United States)

    Mazzaschi, Roberto L. P.; Taylor, Juliet; Robertson, Stephen P.; Love, Donald R.; George, Alice M.

    2014-01-01

    A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild “classic” Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker. PMID:24778889

  14. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

    Directory of Open Access Journals (Sweden)

    Roberto L. P. Mazzaschi

    2014-01-01

    Full Text Available A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild “classic” Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.

  15. The distal end of porcine chromosome 6p is involved in the regulation of skatole levels in boars

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    Crooijmans Richard PMA

    2011-04-01

    Full Text Available Abstract Background Boar taint is an unpleasant condition of pork, mainly due to the accumulation of androstenone and skatole in male pigs at onset of puberty. This condition is the cause of considerable economic losses in the pig industry and the most common practice to control it is to castrate male piglets. Because of the economic and animal welfare concerns there is interest in developing genetic markers that could be used in selection schemes to decrease the incidence of boar taint. The Porcine 60 K SNP Beadchip was used to genotype 891 pigs from a composite Duroc sire line, for which skatole levels in fat had been collected. Results The genome-wide association study revealed that 16 SNPs (single nucleotide polymorphisms located on the proximal region of chromosome 6 were significantly associated with skatole levels. These SNPs are grouped in three separate clusters located in the initial 6 Mb region of chromosome 6. The differences observed between the homozygote genotypes for SNPs in the three clusters were substantial, including a difference of 102.8 ng/g skatole in melted fat between the homozygotes for the ALGA0107039 marker. Single SNPs explain up to 22% of the phenotypic variance. No obvious candidate genes could be pinpointed in the region, which may be due to the need of further annotation of the pig genome. Conclusions This study demonstrated new SNP markers significantly associated with skatole levels in the distal region of chromosome 6p. These markers defined three independent clusters in the region, which contain a low number of protein-coding genes. The considerable differences observed between the homozygous genotypes for several SNPs may be used in future selection schemes to reduce skatole levels in pigs

  16. 17q21 gene variation is not associated with asthma in adulthood

    DEFF Research Database (Denmark)

    Kreiner-Møller, E.; Strachan, D P; Linneberg, A;

    2015-01-01

    function in adulthood. The aim was to examine the association between the 17q21 region and current adult asthma and lung function, and interaction with active smoking. METHODS: We investigated the single nucleotide polymorphism rs7216389 at the 17q21 locus in 3471 adults from the Health2006 cross...

  17. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

    Science.gov (United States)

    Goumy, Carole; Laffargue, Fanny; Eymard-Pierre, Eléonore; Kemeny, Stéphen; Gay-Bellile, Mathilde; Gouas, Laetiti; Gallot, Denis; Francannet, Christine; Tchirkov, Andrei; Pebrel-Richard, Céline; Vago, Philippe

    2015-01-01

    Microdeletions of 17q12 encompassing TCF2 are associated with maturity-onset of diabetes of the young type 5, cystic renal disease, pancreatic atrophy, Mullerian aplasia in females and variable cognitive impairment. We report on a patient with a de novo 17q12 microdeletion, 1.8 Mb in size, associated with congenital diaphragmatic hernia (CDH). The 5-year-old male patient presented multicystic renal dysplasia kidneys, minor facial dysmorphic features and skeletal anomalies, but neither developmental delay nor behavioral abnormalities. CDH has been previously associated with the 17q12 microdeletion syndrome only in one prenatal case. The present study reinforces the hypothesis that CDH is part of the phenotype for 17q12 microdeletion and that 17q12 encompasses candidate(s) gene(s) involved in diaphragm development. We suggest that PIGW, a gene involved in an early step of GPI biosynthesis, could be a strong candidate gene for CDH.

  18. A stable acentric marker chromosome derived from distal 8p: Reactivation of a latent ancient centromere at 8p23.1?

    Energy Technology Data Exchange (ETDEWEB)

    Ohashi, H.; Wakui, K.; Ogawa, K. [Saitama Children`s Medical Ctr., Iwatsuki (Japan)] [and others

    1994-09-01

    Centromere is considered to be an essential chromosomal component for faithful segregation, and acentric chromosomes are unstable and lost through cell divisions. We report a novel marker chromosome that was acentric but stable through cell divisions. The patient was a 2-year-old girl with mental retardation, patent ductus arteriosus and mild dysmorphic features. G-banded chromosome analysis revealed an additional small marker chromosome in all 100 cells examined. Using the targeted chromosome-band painting method, the marker was found to originate from the distal region of 8p, and subsequent two color FISH analysis with cosmid probes around the region revealed the marker was a rearranged chromosome interpreted as 8pter{r_arrow}p23.1{r_arrow}8pter. No centromeric region was involved in the marker. By FISH, no {alpha}-satellite sequence was detected on the marker, while telomere sequence was detected at each end. Antikinetochore immunostaining using a serum from a patient with CREST syndrome showed a pair of signals on the marker, which indicated that a functional kinetochore was present on the marker, presumably at 8p23.1-corresponding region. The patient may provide evidence that an ancient centromere sequence exists at 8p23.1 and was reactivated through the chromosome rearrangement in the patient.

  19. Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants

    DEFF Research Database (Denmark)

    van der Valk, Ralf J P; Duijts, Liesbeth; Timpson, Nicolas J

    2014-01-01

    12, and rs8069176 near gasdermin B (GSDMB; P = 1.88 × 10(-8)) at 17q12-q21. We found a cis expression quantitative trait locus for the transcript soluble galactoside-binding lectin 9 (LGALS9) that is in linkage disequilibrium with rs944722. rs8069176 was associated with GSDMB and ORM1-like 3 (ORMDL3...

  20. Amplification and expression of genes from the 17q11 approximately q12 amplicon in breast cancer cells.

    Science.gov (United States)

    Luoh, Shiuh-Wen

    2002-07-01

    Amplification of a portion of 17q11 approximately q12 involving the human epidermal growth factor receptor-2 (HER-2/neu) gene is common in solid tumors. HER-2/neu amplification in breast cancer is associated with a poor prognosis and may predict response to therapeutic interventions. The molecular complexity and informative content of the 17q11 approximately q12 amplified DNA remain largely unknown. Study of available sequence information in public database allowed us to construct a contig in bacterial artificial chromosome that covers this region. We have identified a several hundred kilobase core segment from this region that is amplified in three out of three breast cancer cell lines with HER-2/neu amplification. There is striking correlation between amplification and overexpression of genes from this region. Amplified and overexpressed genes, in addition to HER-2/neu, may play functional roles in the pathogenesis of breast cancer and may serve as additional targets for therapy. Published by Elsevier Science Inc.

  1. Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2016-12-01

    Conclusion: The 17q12 microduplication may present with variable phenotypes including no apparent phenotypic abnormality in familial cases. However, neuropsychiatry assessment and monitoring should be warranted in childhood and through adulthood under such a circumstance.

  2. The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.

    Science.gov (United States)

    Brueton, L A; van Herwerden, L; Chotai, K A; Winter, R M

    1992-10-01

    Craniosynostosis or premature closure of the cranial sutures is a common abnormality occurring in about 1 in 2500 children. There is evidence of mendelian inheritance in some 20% of cases. Published reports of patients with structural alterations of the short arm of chromosome 7 have suggested that two or more genes for craniosynostosis may be situated in this region. The Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is one of the most common autosomal dominant craniosynostosis syndromes. Results of molecular genetic linkage studies provide evidence for localisation of the gene responsible to distal chromosome 7p.

  3. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

    DEFF Research Database (Denmark)

    Ahmed, Shahana; Thomas, Gilles; Ghoussaini, Maya

    2009-01-01

    strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95% CI = 1.08-1.13, P = 4.1 x 10(-23)) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 x 10(-8)). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q....

  4. 17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

    Science.gov (United States)

    Sharkey, F H; Morrison, N; Murray, R; Iremonger, J; Stephen, J; Maher, E; Tolmie, J; Jackson, A P

    2009-01-01

    Microdeletions of the 17q21.31 region are associated with hypotonia, oromotor dyspraxia, an apparently characteristic face, moderate learning disability and have an estimated prevalence of approximately 1 in 16,000. Here we report 3 individuals who extend further the phenotypic spectrum observed with microdeletions of the 17q21.31 region. They all have learning disability, hypotonia, and craniofacial dysmorphism in keeping with previous reported cases. One case has iris-choroid coloboma and partial situs inversus, 2 features that are newly recorded phenotype abnormalities. These deletions were detected from a cohort of 600 individuals with learning disability and congenital anomalies, reflecting that 17q21.31 microdeletions are a common finding in such cases. FISH analysis demonstrated that each of the deletions occurred as de novo events. The deleted region in our cases encompasses the previously defined critical region for 17q21.31, and includes CRHR1 and MAPT, putative candidate genes for the 17q21.31 phenotype. The 17q21.31 microdeletion phenotype is perhaps more variable than previously described despite haploinsufficiency for the same genes in many cases.

  5. Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?

    Directory of Open Access Journals (Sweden)

    M. White

    2013-01-01

    Full Text Available We report a case of Albright hereditary osteodystrophy (AHO in a three-year-old girl with a microduplication at 17q11.2. The child developed obesity within the first 6 months of life. A diagnosis of Albright was made at age 2 years when biochemical evidence of parathyroid resistance was found. No mutations were identified in guanine nucleotide-binding protein G (s subunit alpha (GNAS1. Subsequent investigations revealed methylation disturbance at GNAS1A, neuroendocrine secretory protein antisense (NESPAS and neuroendocrine secretory protein 55 (NESP55 confirming a diagnosis of pseudohypothyroidism type 1B. A deletion of NESP55 and uniparental disomy chromosome 20 were excluded which suggested that the features of AHO arose through a purely epigenetic mechanism. Further investigation revealed a de novo microduplication at 17q11.2 encompassing the neurofibromatosis type 1 (NF1 gene. The combination of two rare de novo events in the same child raises the possibility that duplication of a gene within the 17q11.2 region may have triggered abnormal methylation in the GNAS cluster region on chromosome 20.

  6. De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.

    Science.gov (United States)

    Afifi, Hanan H; Fukai, Ryoko; Miyake, Noriko; Gamal El Din, Amina A; Eid, Maha M; Eid, Ola M; Thomas, Manal M; El-Badry, Tarek H; Tosson, Angie M S; Abdel-Salam, Ghada M H; Matsumoto, Naomichi

    2015-10-01

    Generalized hypertrichosis is a feature of several genetic disorders, and the nosology of these entities is still provisional. Recent studies have implicated chromosome 17q24.2-q24.3 microdeletion and the reciprocal microduplication in a very rare form of congenital generalized hypertrichosis terminalis (CGHT) with or without gingival hyperplasia. Here, we report on a 5-year-old Egyptian girl born to consanguineous parents. The girl presented with CGHT and gingival hyperplasia for whom we performed detailed clinical, pathological, and molecular studies. The girl had coarse facies characterized by bilateral epicanthic folds, thick and abundant eyelashes, a broad nose, full cheeks, and lips that constituted the distinctive facial features for this syndrome. Biopsy of the gingiva showed epithelial marked acanthosis and hyperkeratosis with hyperplastic thick collagen bundles and dense fibrosis in the underlying tissues. Array analysis indicated a 17q24.2-q24.3 chromosomal microdeletion. We validated this microdeletion by real-time quantitative PCR and confirmed a perfect co-segregation of the disease phenotype within the family. In summary, this study indicates that 17q24.2-q24.3 microdeletion caused CGHT with gingival hyperplasia and distinctive facies, which should be differentiated from the autosomal recessive type that lacks the distinctive facies.

  7. Loss of heterozygosity at chromosomes 1p35-pter, 4q, and 18q and protein expression differences between adenocarcinomas of the distal stomach and gastric cardia.

    Science.gov (United States)

    Xu, Yan; Man, Xiaohui; Lv, Zhi; Li, Deming; Sun, Zhe; Chen, Hong; Wang, Zhenning; Luo, Yang; Xu, Huimian

    2012-12-01

    Loss of heterozygosity of 1p35-pter, 4q, and 18q is frequent in gastric carcinoma, suggesting that these regions harbor tumor suppressor genes. However, the differences in these genetic alterations between adenocarcinoma of the gastric cardia and adenocarcinoma of the distal stomach remain unclear. In this study, loss of heterozygosity at chromosomes 1p35-pter, 4q, and 18q were analyzed in adenocarcinoma of the gastric cardia and adenocarcinoma of the distal stomach samples acquired by laser capture microdissection. The expression of several tumor suppressor gene proteins, runt-related transcription factor 3 (1p36), annexin A10 (4q33), SMAD family member 4 (18q21.1), and deleted in colorectal carcinoma (18q21.3), was evaluated immunohistochemically. The adenocarcinoma of the distal stomach and adenocarcinoma of the gastric cardia lesions had a similar trend in total deletion frequency for chromosomes 1p35-pter (36.5% for adenocarcinoma of the distal stomach and 32.5% for adenocarcinoma of the gastric cardia), 4q (42.3% for adenocarcinoma of the distal stomach and 47.5% for adenocarcinoma of the gastric cardia), and 18q (38.5% for adenocarcinoma of the distal stomach and 45% for adenocarcinoma of the gastric cardia). However, loss of heterozygosity patterns were clearly different in the 2 adenocarcinomas. Deletion mapping indicated that 4q32.2-4q34.3, 18q21.2-21.31, 18q22.3-23, and 1p35.2-1p36.13 were involved in adenocarcinoma of the distal stomach, whereas 4q13.3-4q22.3, 4q31.21-4q32.2, 18q21.31-18q22.1, and 1p35.2-1p36.13 were involved in adenocarcinoma of the gastric cardia. Expression of ANXA10 (P = .038), SMAD family member 4 (P = .028), and deleted in colorectal carcinoma (P = .004) was less common in adenocarcinoma of the distal stomach than in adenocarcinoma of the gastric cardia. Expression of runt-related transcription factor 3 (P = .795) showed no significant difference in the 2 tumors. The tumors differed in the profile of genetic alterations and

  8. 17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

    Science.gov (United States)

    Bernardo, Pia; Madia, Francesca; Santulli, Lia; Del Gaudio, Luigi; Caccavale, Carmela; Zara, Federico; Traverso, Monica; Cirillo, Mario; Striano, Salvatore; Coppola, Antonietta

    2016-08-01

    The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, was first described in 2006 in individuals with intellectual disabilities and organ abnormalities. We report the clinical, instrumental, cytogenetic and molecular investigations of a boy admitted for epilepsy and intellectual disabilities. We carried out detailed analysis of the clinical phenotype of this patient and investigated the genetic basis by using aCGH. We identified a de novo microdeletion on chromosome 17q21.31, compatible with Koolen-de Vries syndrome. Our case shares some of the typical characteristics of the syndrome already described by other authors: delayed psychomotor development, primarily affecting the expressive language, dysmorphic facial features, and epilepsy. However the clinical outcome was not severe as the intellectual disabilities were moderate with good adaptive and functional behaviour. Epilepsy was easily controlled by a single drug, and he never needed surgery for organ abnormalities.

  9. A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype.

    Science.gov (United States)

    Estabrooks, L L; Lamb, A N; Kirkman, H N; Callanan, N P; Rao, K W

    1992-11-01

    We report two families with a satellited chromosome 4 short arm (4ps). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited nonacrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is the first report of 4ps chromosomes. Our families are remarkable in that both unaffected and affected individuals carry the 4ps chromosome. The phenotypes observed in affected individuals, although dissimilar, were sufficient to encourage a search for a deletion of chromosome 4p. By Southern blot analysis and fluorescence in situ hybridization, a deletion of material mapping approximately 150 kb from chromosome 4pter was discovered. This deletion is notable because it does not result in the Wolf-Hirschhorn syndrome and can result in an apparently normal phenotype. We speculate that homology between subterminal repeat sequences on 4p and sequences on the acrocentric short arms may explain the origin of the rearrangement and that position effect may play a role in the expression of the abnormal phenotype.

  10. Chromosome

    Science.gov (United States)

    Chromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA ... is the building block of the human body. Chromosomes also contain proteins that help DNA exist in ...

  11. Chromosome breakage in Prader-Willi and Angelman syndrome deletions may involve recombination between a repeat at the proximal and distal breakpoints

    Energy Technology Data Exchange (ETDEWEB)

    Amos-Landgraf J.; Nicholls, R.D. [Case Western Reserve Univ., Cleveland, OH (United States); Gottlieb, W. [Univ. of Florida, Gainesville, FL (United States)] [and others

    1994-09-01

    Prader-Willi (PWS) and Angelman (AS) syndromes most commonly arise from large deletions of 15q11-q13. Deletions in PWS are paternal in origin, while those in AS are maternal in origin, clearly demonstrating genomic imprinting in these clinically distinct neurobehavioural disorders. In at least 90% of PWS and AS deletion patients, the same 4 Mb region within 15q11-q13 is deleted with breakpoints clustering in single YAC clones at the proximal and distal ends. To study the mechanism of chromosome breakage in PWS and AS, we have previously isolated 25 independent clones from these three YACs using Alu-vector PCR. Four clones were selected that appear to detect a low copy repeat that is located in the proximal and distal breakpoint regions of chromosome 15q11-q13. Three clones detect the same 4 HindIII bands in genomic DNA, all from 15q11-q13, with differing intensities for the probes located at the proximal or distal breakpoints region, respectively. This suggests that these probes detect related members of a low-copy repeat at either location. Moreover, the 254RL2 probe detects a novel HindIII band in two unrelated PWS deletion patients, suggesting that this may represent a breakpoint fragment, with recombination occurring within a similar interval in both patients. A fourth clone, 318RL3 detects 5 bands in HindIII-digested genomic DNA, all from 15q11-q13. This YAC endclone itself is not deleted in PWS and AS deletion patients, as seen by an invariant strong band. Two other strong bands are variably intact or deleted in different PWS or AS deletion patients, suggesting a relationship of this sequence to the breakpoints. Moreover, PCR using 318RL3 primers from the distal 93C9 YAC led to the isolation of a related clone with 96% identity, demonstrating the existence of a low-copy repeat with members close to the proximal and distal breakpoints. Taken together, our data suggest a complex, low-copy repeat with members at both the proximal and distal boundaries.

  12. Physical mapping of a large plant genome using global high-information-content-fingerprinting: the distal region of the wheat ancestor Aegilops tauschii chromosome 3DS

    Directory of Open Access Journals (Sweden)

    You Frank M

    2010-06-01

    Full Text Available Abstract Background Physical maps employing libraries of bacterial artificial chromosome (BAC clones are essential for comparative genomics and sequencing of large and repetitive genomes such as those of the hexaploid bread wheat. The diploid ancestor of the D-genome of hexaploid wheat (Triticum aestivum, Aegilops tauschii, is used as a resource for wheat genomics. The barley diploid genome also provides a good model for the Triticeae and T. aestivum since it is only slightly larger than the ancestor wheat D genome. Gene co-linearity between the grasses can be exploited by extrapolating from rice and Brachypodium distachyon to Ae. tauschii or barley, and then to wheat. Results We report the use of Ae. tauschii for the construction of the physical map of a large distal region of chromosome arm 3DS. A physical map of 25.4 Mb was constructed by anchoring BAC clones of Ae. tauschii with 85 EST on the Ae. tauschii and barley genetic maps. The 24 contigs were aligned to the rice and B. distachyon genomic sequences and a high density SNP genetic map of barley. As expected, the mapped region is highly collinear to the orthologous chromosome 1 in rice, chromosome 2 in B. distachyon and chromosome 3H in barley. However, the chromosome scale of the comparative maps presented provides new insights into grass genome organization. The disruptions of the Ae. tauschii-rice and Ae. tauschii-Brachypodium syntenies were identical. We observed chromosomal rearrangements between Ae. tauschii and barley. The comparison of Ae. tauschii physical and genetic maps showed that the recombination rate across the region dropped from 2.19 cM/Mb in the distal region to 0.09 cM/Mb in the proximal region. The size of the gaps between contigs was evaluated by comparing the recombination rate along the map with the local recombination rates calculated on single contigs. Conclusions The physical map reported here is the first physical map using fingerprinting of a complete

  13. Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome

    NARCIS (Netherlands)

    Egger, J.I.M.; Wingbermühle, P.A.M.; Verhoeven, W.M.A.; Dijkman, M.W.; Radke, S.; Bruijn, E.R.A. de; Vries, B. de; Kessels, R.P.C.; Koolen, D.A.

    2013-01-01

    The 17q21.31 microdeletion syndrome with its characteristic features including developmental delay, moderate intellectual disability, facial dysmorphisms, and anomalies of the brain and multiple organ systems was recently described. As to its behavioral profile, scarce data from clinical

  14. A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

    Directory of Open Access Journals (Sweden)

    Adrian Mc Cormack

    2014-01-01

    Full Text Available Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses the CRHR1, MAPT, and KANSL1 genes, as well as a microdeletion in chromosome 7q31.33 that is localised within the GRM8 gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment.

  15. Rapid detection of t(15;17)(q24;q21) in acute promyelocytic leukaemia by microwave-assisted fluorescence in situ hybridization.

    Science.gov (United States)

    Soriani, Silvia; Mura, Cinzia; Panico, Anna Rita; Scarpa, Anna Maria; Recchimuzzo, Patrizia; Dadati, Raffaella; Farioli, Renata; De Canal, Gabriella; Mura, Maria Angela; Cesana, Clara

    2017-03-01

    Acute promyelocytic leukaemia (APL) is a hematologic malignancy characterized by the rearrangement of the PML and RARα genes, mostly due to a reciprocal chromosomal translocation t(15;17)(q24;q21). A quick APL diagnosis is essential for starting a prompt suitable therapy. We describe a new rapid diagnostic laboratory approach to detect the PML-RARα rearrangement, which gives clear genetic results within 30 min of hybridization. It combines quick cell harvesting, fluorescence in situ hybridization performed with commercial DNA probe and microwave beams supplied by a domestic microwave oven. Copyright © 2015 John Wiley & Sons, Ltd. Copyright © 2015 John Wiley & Sons, Ltd.

  16. Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.

    Science.gov (United States)

    Goh, Elaine Suk-Ying; Banwell, Brenda; Stavropoulos, Dimitri James; Shago, Mary; Yoon, Grace

    2014-03-01

    We report on a girl with a de novo mosaic derivative chromosome 17 involving a 7.4 Mb deletion of chromosome region 17p11.2 to 17p12 and a duplication of a 12.35 Mb region at 17q22 to 17q24. She was ascertained because of developmental delay, peripheral neuropathy, brachydactyly and minor anomalies. The derivative chromosome was present in approximately 12% of lymphocytes based on FISH studies, and was detected by array comparative genomic hybridization. To our knowledge, this is the third case of mosaicism involving deletion of the 17p11.2 region and the lowest level of mosaicism reported in a patient with Smith-Magenis syndrome (SMS).

  17. Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: Meiotic studies in a man with a deletion of distal Xp

    Energy Technology Data Exchange (ETDEWEB)

    Mohandas, T.K.; Passage, M.B.; Yen, P.H.; Speed, R.M.; Chandley, A.C.; Shapiro, L.J. (Univ. of California, San Francisco, CA (United States))

    1992-09-01

    Meiotic studies were undertaken in a 24-year-old male patient with short stature, chondrodysplasia punctata, ichthyosis, steroid sulfatase deficiency, and mild mental retardation with an inherited cytologically visible deletion of distal Xp. Molecular investigations showed that the pseudoautosomal region as well as the steroid sulfatase gene were deleted, but telomeric sequences were present at the pter on the deleted X chromosome. A complete failure of sex-chromosome pairing was observed in the primary spermatocytes of the patient. Telomeric approaches between the sex chromosomes were made at zygotene in some cells, but XY synaptonemal complex was formed. The sex chromosomes were present as univalents at metaphase I, and germ-cell development was arrested between metaphase I and metaphase II in the vast majority of cells, consistent with the azoospermia observed in the patient. The failure of XY pairing in this individual indicates that the pseudoautosomal sequences play an important role in initiating XY pairing and formation of synaptonemal complex at meiosis. 36 refs., 6 figs.

  18. Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

    Science.gov (United States)

    Koolen, David A; Dupont, Juliette; de Leeuw, Nicole; Vissers, Lisenka ELM; van den Heuvel, Simone PA; Bradbury, Alyson; Steer, James; de Brouwer, Arjan PM; ten Kate, Leo P; Nillesen, Willy M; de Vries, Bert BA; Parker, Michael J

    2012-01-01

    The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive facial dysmorphism, and congenital anomalies. To date, all individuals reported with this syndrome have been simplex patients, resulting from de novo deletions. Here, we report sibling recurrence of the 17q21.31 microdeletion syndrome in two independent families. In both families, the mother was confirmed to be the parent-of-origin for the 17q21.31 deletion. Fluorescence in situ hybridisation analyses in buccal mucosa cells, of the mother of family 1, identified monosomy 17q21.31 in 4/50 nuclei (8%). In mother of family 2, the deletion was identified in 2/60 (3%) metaphase and in 3/100 (3%) interphase nuclei in peripheral lymphocytes, and in 7/100 (7%) interphase nuclei in buccal cells. A common 17q21.31 inversion polymorphism predisposes to non-allelic homologous recombination and hereby to the 17q21.31 microdeletion syndrome. On the basis of the 17q21.31 inversion status of the parents, we calculated that the probability of the second deletion occurring by chance alone was 1/14 438 and 1/4812, respectively. If the inversion status of the parents of a child with the 17q21.31 microdeletion syndrome is unknown, the overall risk of a second child with the 17q21.31 microdeletion is 1/9461. We conclude that the presence of low-level maternal somatic–gonadal mosaicism is associated with the microdeletion recurrence in these families. This suggests that the recurrence risk for parents with a child with a 17q21.31 microdeletion for future pregnancies is higher than by chance alone and testing for mosaicism in the parents might be considered as a helpful tool in the genetic counselling. PMID:22293690

  19. Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis.

    Science.gov (United States)

    Chu, Pei-Yi; Cheng, Chih-Jen; Tseng, Min-Hua; Yang, Sung-Sen; Chen, Hsiang-Cheng; Lin, Shih-Hua

    2012-12-24

    A recent genome-wide association study of Thai patients with thyrotoxic periodic paralysis (TPP) identified a novel genetic variant rs623011 located in chromosome 17q24.3, which may potentially reduce the transcription of Kir2.1 and total Kir current. The aim of this study was to evaluate whether this genetic variant was present in Chinese patients with TPP and sporadic periodic paralysis (SPP), the second leading cause of non-familial hypokalemic periodic paralysis (hypoKPP) in Asia. Ninety patients with TPP, 61 SPP, and 100 age and sex-matched healthy subjects were performed. Genomic DNA was isolated from blood leukocytes and analysis of rs623011 was performed by polymerase chain reaction and direct sequencing. Compared with normal control, the frequency of the risk allele A of rs623011 was significantly higher in both TPP and SPP patients (73.9% versus 53.5%, p=0.001; 82.0% versus 53.5%, p<0.001, respectively) with the Odds ratios (95% confidence interval) 2.426 (1.348-4.369) and 4.488 (2.265-8.891), respectively. The frequency of the A allele of rs623011 was similar between TPP and SPP. TPP and SPP have the same susceptible gene variant rs623011 and may share the pathogenic mechanism of reduced Kir current in skeletal muscle independent of thyroid hormone. Copyright © 2012 Elsevier B.V. All rights reserved.

  20. CHROMOSOME 17P MAY HARBOR MULTIPLE TUMOR SUPPRESSOR GENES ASSOCIATED WITH PRIMARY GLIOBLASTOMA MULTIFORME

    Institute of Scientific and Technical Information of China (English)

    胡杰; 江澄川; 吴浩强; 彭颂先; 唐婉君

    2002-01-01

    Objective: To investigate whether deletion of chromosome 17 is involved in the carcinogenesis of primary glioblastoma multiforme and to localize the possible common deletion region in the aforementioned chromosome. Methods: Polymerase chain reaction-based microsatellite analysis was used to assess loss of heterozygosity (LOH) on chromosome 17 in 20 primary glioblastoma multiforme (GBM). Fifteen fluorescent dye-labeled polymorphic markers were used. Results: Thirteen of twenty (65%) GBM displayed LOH on at least one marker of chromosome 17p. Two tumors showed either LOH or non-informativeness on all markers tested. The most frequent LOH was observed at loci including D17s799 (53.3%), Dl7s1852 (53.8%), Dl7s938 (63.20/o), Dl7s831 (55.6%). The loci D17s831 (on 17pl3) and D17s799(Dl7sl852 (17p11.2(pl2) are distal and proximal to p53 respectively. The frequencies of LOH at all loci examined on chromosome 17q were relatively low (<30%). None of informative loci exhibited microsatellite instability in this study. Conclusion: Loss of genetic material on chromosome 17p may play an important role in the pathogenesis of GBM. Besides the well-known TSG p53 on 17p, other unknown TSCs associated with GBM may be present on the chromosomal regions 17pl3 and 17p11.2(pl2, which are distal and proximal to p53 respectively.

  1. Yeast artificial chromosome contigs reveal that distal variable-region genes reside at least 3 megabases from the joining regions in the murine immunoglobulin kappa locus.

    Science.gov (United States)

    George, J B; Li, S; Garrard, W T

    1995-01-01

    The immunoglobulin kappa gene locus encodes 95% of the light chains of murine antibody molecules and is thought to contain up to 300 variable (V kappa)-region genes generally considered to comprise 20 families. To delineate the locus we have isolated 29 yeast artificial chromosome genomic clones that form two contigs, span > 3.5 megabases, and contain two known non-immunoglobulin kappa markers. Using PCR primers specific for 19 V kappa gene families and Southern analysis, we have refined the genetically defined order of these V kappa gene families. Of these, V kappa 2 maps at least 3.0 Mb from the joining (J kappa) region and appears to be the most distal V kappa gene segment. Images Fig. 3 Fig. 4 PMID:8618913

  2. Association between 17q25.3-rs6465657 polymorphism and prostate cancer susceptibility: a meta-analysis based on 19 studies

    Science.gov (United States)

    Jiang, Xiao; Zhang, Mei; Bai, Xiao-Yan; Li, Shujing; Wu, Huijian

    2016-01-01

    Background Genome-wide association studies have identified rs6465657 polymorphism at chromosome 17q25.3 as a new prostate cancer (PCa) susceptibility locus in people of European descent. However, subsequent replication studies have yielded inconsistent results among different ethnicities. In this study, a comprehensive meta-analysis was conducted to systematically evaluate the relationship between rs6465657 polymorphism and PCa risk. Methods All the articles involved were identified from PubMed, EMBASE, Web of Science, EBSCO databases, and Google Scholar before December 2015. The odds ratios (ORs) with corresponding 95% confidence internals (95% CIs) were pooled under the allele model. Fourteen eligible articles with 19 studies were finally included. Results In the overall population, the 17q25.3-rs6465657C allele was found to be significantly associated with increased risk of PCa compared to the T allele (OR =1.097; 95% CI: 1.061–1.134; P<0.001). In the subgroup analysis stratified by ethnicity, significantly increased risk was found in the Caucasian population (OR =1.120; 95% CI: 1.078–1.162; P<0.001), while the difference of OR did not reach the statistical significance in the Asian or African-American population. The analyses of sensitivity indicated the robust stability of the results, and the Begg’s and Egger’s test indicated that no publication bias existed. Conclusion The current meta-analysis suggested that the 17q25.3-rs6465657 polymorphism could be associated with PCa susceptibility, especially in the Caucasians, while this association might be different in other ethnicities. PMID:27524905

  3. A structural locus for coagulation factor XIIIA (F13A) is located distal to the HLA region on chromosome 6p in man.

    Science.gov (United States)

    Olaisen, B; Gedde-Dahl, T; Teisberg, P; Thorsby, E; Siverts, A; Jonassen, R; Wilhelmy, M C

    1985-01-01

    Linkage between the locus for coagulation factor XIIIA (F13A) and HLA-region genes has been revealed during a linkage study between F13A and approximately 40 other polymorphic marker genes. In males, the maximum lod score between F13A and HLA-region genes (HLA-A, -C, -B, -DR; C4A, -B; Bf; and/or C2) is 7.60 at theta 1 = .18. To GLO, the maximum lod score is 2.37 at theta 1 = .19; to PGM3, .22 at theta 1 = .35. Female data indicate a clear sex difference in recombination frequency between F13A and HLA. The present findings, in combination with earlier knowledge of PGM3/GLO/HLA localization and gene distances, show that F13A is distal to HLA on the short arm of chromosome 6 in man. It is thus likely that by including FXIIIA typing in linkage studies, the whole male 6p is within mapping distance of highly polymorphic, classical marker genes. Earlier findings that the Hageman factor gene (F12) is located in the same chromosomal region may indicate the presence of a coagulation factor gene cluster in this region.

  4. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

    DEFF Research Database (Denmark)

    Mefford, Heather C; Clauin, Severine; Sharp, Andrew J

    2007-01-01

    of the microdeletions, identified in a fetus with multicystic dysplastic kidneys, encompasses the TCF2 gene on 17q12, previously shown to be mutated in maturity-onset diabetes, as well as in a subset of pediatric renal abnormalities. Fine-scale mapping of the breakpoints in different patient cohorts revealed...... a recurrent 1.5-Mb de novo deletion in individuals with phenotypes that ranged from congenital renal abnormalities to maturity-onset diabetes of the young type 5. We also identified the reciprocal duplication, which appears to be enriched in samples from patients with epilepsy. We describe the first example...

  5. Down-regulation in multiple human cancers of a novel gene, DMHC, from 17q25.1 that encodes an integral membrane protein.

    Science.gov (United States)

    Mikami, I; Harada, H; Nagai, H; Tsuneizumi, M; Nobe, Y; Koizumi, K; Sugano, S; Tanaka, S; Emi, M

    2001-04-01

    Frequent observations of allelic loss in chromosomal band 17q25.1 in a variety of human cancers have suggested that one or more tumor suppressor genes are present in that region. Moreover, a genetic locus for hereditary focal non-epidermolytic palmoplantar keratoderma, a condition associated with cancer of the esophagus (TOC; Tylosis with Oesophageal Cancer), lies in the same region. We screened cell lines derived from a variety of human cancers by reverse transcription-polymerase chain reaction (RT-PCR) to detect alterations in expression of genes within the region in question, by examining expressed sequence tags located there. These experiments identified an 1834-bp full-length cDNA encoding a novel, 441-amino acid integral membrane protein with seven putative transmembrane domains. This gene showed loss or extreme decrease of expression in 6 of 10 uterine cancer-cell lines, 2 of 11 hepatic cell carcinoma-cell lines, 2 of 7 lung cancer-cell lines, 1 of 6 gastric cancer-cell lines, and 1 of 10 breast cancer-cell lines. (We named it DMHC ("down-regulated in multiple human cancers").) Our results suggest that loss of expression of DMHC at 17q25.1 may play an important role in development of variety of human cancers.

  6. 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

    Science.gov (United States)

    Le Guennec, K; Quenez, O; Nicolas, G; Wallon, D; Rousseau, S; Richard, A-C; Alexander, J; Paschou, P; Charbonnier, C; Bellenguez, C; Grenier-Boley, B; Lechner, D; Bihoreau, M-T; Olaso, R; Boland, A; Meyer, V; Deleuze, J-F; Amouyel, P; Munter, H M; Bourque, G; Lathrop, M; Frebourg, T; Redon, R; Letenneur, L; Dartigues, J-F; Martinaud, O; Kalev, O; Mehrabian, S; Traykov, L; Ströbel, T; Le Ber, I; Caroppo, P; Epelbaum, S; Jonveaux, T; Pasquier, F; Rollin-Sillaire, A; Génin, E; Guyant-Maréchal, L; Kovacs, G G; Lambert, J-C; Hannequin, D; Campion, D; Rovelet-Lecrux, A

    2016-12-13

    To assess the role of rare copy number variations in Alzheimer's disease (AD), we conducted a case-control study using whole-exome sequencing data from 522 early-onset cases and 584 controls. The most recurrent rearrangement was a 17q21.31 microduplication, overlapping the CRHR1, MAPT, STH and KANSL1 genes that was found in four cases, including one de novo rearrangement, and was absent in controls. The increased MAPT gene dosage led to a 1.6-1.9-fold expression of the MAPT messenger RNA. Clinical signs, neuroimaging and cerebrospinal fluid biomarker profiles were consistent with an AD diagnosis in MAPT duplication carriers. However, amyloid positon emission tomography (PET) imaging, performed in three patients, was negative. Analysis of an additional case with neuropathological examination confirmed that the MAPT duplication causes a complex tauopathy, including prominent neurofibrillary tangle pathology in the medial temporal lobe without amyloid-β deposits. 17q21.31 duplication is the genetic basis of a novel entity marked by prominent tauopathy, leading to early-onset dementia with an AD clinical phenotype. This entity could account for a proportion of probable AD cases with negative amyloid PET imaging recently identified in large clinical series.Molecular Psychiatry advance online publication, 13 December 2016; doi:10.1038/mp.2016.226.

  7. Translocation t(12;17)(q24.1;q21) as the sole anomaly in a nasal chondromesenchymal hamartoma arising in a patient with pleuropulmonary blastoma.

    Science.gov (United States)

    Behery, Radwa El; Bedrnicek, Jiri; Lazenby, Audrey; Nelson, Marilu; Grove, Jennifer; Huang, Dali; Smith, Russell; Bridge, Julia A

    2012-01-01

    The identification of recurrent chromosomal abnormalities in benign and malignant mesenchymal neoplasms has provided important pathogenetic insight as well as powerful diagnostic adjuncts. Nasal chondromesenchymal hamartoma (NCMH), an extremely rare benign tumor arising in the sinonasal tract of infants and children, has not been previously subjected to cytogenetic analysis. Histopathologically composed of mixed mesenchymal elements, NCMH exhibits a relatively wide differential diagnosis to include chondromyxoid fibroma, chondroblastoma, aneurysmal bone cyst, fibrous dysplasia, and osteochondromyxoma. An interesting association with pleuropulmonary blastoma has been reported in a small subset of NCMH patients. In the current study, cytogenetic analysis of a NCMH arising in an 11-year-old boy with a past medical history of pleuropulmonary blastoma revealed a novel 12;17 translocation, t(12;17)(q24.1;q21), as the sole anomaly.

  8. Haplotypes at the Tas2r locus on distal chromosome 6 vary with quinine taste sensitivity in inbred mice

    Directory of Open Access Journals (Sweden)

    Munger Steven D

    2005-06-01

    Full Text Available Abstract Background The detection of bitter-tasting compounds by the gustatory system is thought to alert animals to the presence of potentially toxic food. Some, if not all, bitter stimuli activate specific taste receptors, the T2Rs, which are expressed in subsets of taste receptor cells on the tongue and palate. However, there is evidence for both receptor-dependent and -independent transduction mechanisms for a number of bitter stimuli, including quinine hydrochloride (QHCl and denatonium benzoate (DB. Results We used brief-access behavioral taste testing of BXD/Ty recombinant inbred (RI mouse strains to map the major quantitative trait locus (QTL for taste sensitivity to QHCl. This QTL is restricted to a ~5 Mb interval on chromosome 6 that includes 24 genes encoding T2Rs (Tas2rs. Tas2rs at this locus display in total 307 coding region single nucleotide polymorphisms (SNPs between the two BXD/Ty RI parental strains, C57BL/6J (quinine-sensitive and DBA/2J (quinine insensitive; approximately 50% of these mutations are silent. Individual RI lines contain exclusively either C57BL/6J or DBA/2J Tas2r alleles at this locus, and RI lines containing C57BL/6J Tas2r alleles are more sensitive to QHCl than are lines containing DBA/2J alleles. Thus, the entire Tas2r cluster comprises a large haplotype that correlates with quinine taster status. Conclusion These studies, the first using a taste-salient assay to map the major QTL for quinine taste, indicate that a T2R-dependent transduction cascade is responsible for the majority of strain variance in quinine taste sensitivity. Furthermore, the large number of polymorphisms within coding exons of the Tas2r cluster, coupled with evidence that inbred strains exhibit largely similar bitter taste phenotypes, suggest that T2R receptors are quite tolerant to variation.

  9. The distal portion of the short arm of wheat (Triticum aestivum L.) chromosome 5D controls endosperm vitreosity and grain hardness.

    Science.gov (United States)

    Morris, Craig F; Beecher, Brian S

    2012-07-01

    Kernel vitreosity is an important trait of wheat grain, but its developmental control is not completely known. We developed back-cross seven (BC(7)) near-isogenic lines in the soft white spring wheat cultivar Alpowa that lack the distal portion of chromosome 5D short arm. From the final back-cross, 46 BC(7)F(2) plants were isolated. These plants exhibited a complete and perfect association between kernel vitreosity (i.e. vitreous, non-vitreous or mixed) and Single Kernel Characterization System (SKCS) hardness. Observed segregation of 10:28:7 fit a 1:2:1 Chi-square. BC(7)F(2) plants classified as heterozygous for both SKCS hardness and kernel vitreosity (n = 29) were selected and a single vitreous and non-vitreous kernel were selected, and grown to maturity and subjected to SKCS analysis. The resultant phenotypic ratios were, from non-vitreous kernels, 23:6:0, and from vitreous kernels, 0:1:28, soft:heterozygous:hard, respectively. Three of these BC(7)F(2) heterozygous plants were selected and 40 kernels each drawn at random, grown to maturity and subjected to SKCS analysis. Phenotypic segregation ratios were 7:27:6, 11:20:9, and 3:28:9, soft:heterozygous:hard. Chi-square analysis supported a 1:2:1 segregation for one plant but not the other two, in which cases the two homozygous classes were under-represented. Twenty-two paired BC(7)F(2):F(3) full sibs were compared for kernel hardness, weight, size, density and protein content. SKCS hardness index differed markedly, 29.4 for the lines with a complete 5DS, and 88.6 for the lines possessing the deletion. The soft non-vitreous kernels were on average significantly heavier, by nearly 20%, and were slightly larger. Density and protein contents were similar, however. The results provide strong genetic evidence that gene(s) on distal 5DS control not only kernel hardness but also the manner in which the endosperm develops, viz. whether it is vitreous or non-vitreous.

  10. Frequency, prognostic impact, and subtype association of 8p12, 8q24, 11q13, 12p13, 17q12, and 20q13 amplifications in breast cancers

    Directory of Open Access Journals (Sweden)

    Viens Patrice

    2006-10-01

    Full Text Available Abstract Background Oncogene amplification and overexpression occur in tumor cells. Amplification status may provide diagnostic and prognostic information and may lead to new treatment strategies. Chromosomal regions 8p12, 8q24, 11q13, 17q12 and 20q13 are recurrently amplified in breast cancers. Methods To assess the frequencies and clinical impact of amplifications, we analyzed 547 invasive breast tumors organized in a tissue microarray (TMA by fluorescence in situ hybridization (FISH and calculated correlations with histoclinical features and prognosis. BAC probes were designed for: (i two 8p12 subregions centered on RAB11FIP1 and FGFR1 loci, respectively; (ii 11q13 region centered on CCND1; (iii 12p13 region spanning NOL1; and (iv three 20q13 subregions centered on MYBL2, ZNF217 and AURKA, respectively. Regions 8q24 and 17q12 were analyzed with MYC and ERBB2 commercial probes, respectively. Results We observed amplification of 8p12 (amplified at RAB11FIP1 and/or FGFR1 in 22.8%, 8q24 in 6.1%, 11q13 in 19.6%, 12p13 in 4.1%, 17q12 in 9.9%, 20q13Z (amplified at ZNF217 only in 9.9%, and 20q13Co (co-amplification of two or three 20q13 loci in 8.5% of cases. The 8q24, 12p13, and 17q12 amplifications were correlated with high grade. The most frequent single amplifications were 8p12 (9.8%, 8q24 (3.3% and 12p13 (3.3%, 20q13Z and 20q13Co (1.6% regions. The 17q12 and 11q13 regions were never found amplified alone. The most frequent co-amplification was 8p12/11q13. Amplifications of 8p12 and 17q12 were associated with poor outcome. Amplification of 12p13 was associated with basal molecular subtype. Conclusion Our results establish the frequencies, prognostic impacts and subtype associations of various amplifications and co-amplifications in breast cancers.

  11. Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22

    NARCIS (Netherlands)

    S.M. Rosso (Sonia); W. Kamphorst (Wouter); B.M. de Graaf (Bianca); R. Willemsen (Rob); R. Ravid (Rivka); M.F. Niermeijer (Martinus); M.G. Spillantini; P. Heutink (Peter)

    2001-01-01

    textabstractHereditary frontotemporal dementia (FTD) is an autosomal dominant neurodegenerative disorder that is associated with mutations in the tau gene and with the pathological accumulation of hyperphosphorylated tau protein in affected brain cells in about a quarter of cases.

  12. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

    NARCIS (Netherlands)

    Koolen, D.A.; Kramer, J.M.; Neveling, K.; Nillesen, W.M.; Moore-Barton, H.L.; Elmslie, F.V.; Toutain, A.; Amiel, J.; Malan, V.; Tsai, A.C.; Cheung, S.W.; Gilissen, C.F.H.A.; Verwiel, E.T.P.; Martens, Sarah; Feuth, T.; Bongers, M.H.F.; Vries, P.F. de; Scheffer, H.; Vissers, L.E.L.M.; Brouwer, A.P.M. de; Brunner, H.G.; Veltman, J.A.; Schenck, A.; Yntema, H.G.; Vries, B.B. de

    2012-01-01

    We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. The KANSL1 protein is an evolutionarily conserved regulator of the chromatin modifier KAT8

  13. Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21.31 inversion polymorphism region

    Science.gov (United States)

    Bekpen, Cemalettin; Tastekin, Ibrahim; Siswara, Priscillia; Akdis, Cezmi A.; Eichler, Evan E.

    2012-01-01

    The LRRC37 gene family maps to a complex region of the human genome and has been subjected to multiple rounds of segmental duplication. We investigate the expression and regulation of this gene family in multiple tissues and organisms and show a testis-specific expression of this gene family in mouse but a more ubiquitous pattern of expression among primates. Evolutionary and phylogenetic analyses support a model in which new alternative promoters have been acquired during primate evolution. We identify two promoters, Cl8 and particularly Cl3, both of which are highly active in the cerebellum and fetal brain in human and have been duplicated from a promoter region of two unrelated genes, BPTF and DND1, respectively. Two of these more broadly expressed gene family members, LRRC37A1 and A4, define the boundary of a common human inversion polymorphism mapping to chromosome 17q21.31 (the MAPT locus)—a region associated with risk for frontal temporal dementia, Parkinsonism, and intellectual disability. We propose that the regulation of the LRRC37 family occurred in a stepwise manner, acquiring foreign promoters from BPTF and DND1 via segmental duplication. This unusual evolutionary trajectory altered the regulation of the LRRC37 family, leading to increased expression in the fetal brain and cerebellum. PMID:22419166

  14. Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21.

    Science.gov (United States)

    Reis, A; Küster, W; Eckardt, R; Sperling, K

    1992-01-01

    Epidermolytic palmoplantar keratoderma (EPPK) (Vörner-Unna-Thost) is an autosomal dominantly inherited skin disease of unknown etiology characterized by diffuse severe hyperkeratosis of the palms and soles and, histologically, by cellular degeneration. We have mapped a gene for EPPK to chromosome 17q11-q23, with linkage analysis using microsatellite DNA-polymorphisms, in a single large family of 7 generations. A maximum lod score of z = 6.66 was obtained with the probe D17S579 at a recombination fraction of theta = 0.00. This locus maps to the same region as the type I (acidic) keratin gene cluster. Keratins, members of the intermediate filament family, the major proteins of the cytoskeleton in epidermis, are differentially expressed in a tissue-specific manner. One acidic keratin, keratin 9 (KRT9), is expressed only in the terminally differentiated epidermis of palms and soles. The KRT9 gene has not yet been cloned; however, since the genes for most acidic keratins are clustered, it is highly probable that it too will map to this region. We therefore propose KRT9 as the candidate gene for EPPK.

  15. Down-regulation in human cancers of DRHC, a novel helicase-like gene from 17q25.1 that inhibits cell growth.

    Science.gov (United States)

    Nagai, H; Yabe, A; Mine, N; Mikami, I; Fujiwara, H; Terada, Y; Hirano, A; Tsuneizumi, M; Yokota, T; Emi, M

    2003-04-10

    Frequent observations of allelic loss in chromosomal band 17q25.1 in a variety of human cancers have suggested that one or more tumor suppressor genes are normally present in this region. Moreover, a locus responsible for hereditary focal non-epidermolytic palmoplantar keratoderma (tylosis oesophageal cancer; TOC), a condition associated with esophageal cancer, has been mapped to the same band. During efforts to sequence, by shot-gun methods, a 1 Mb target region that we had defined as the DNA segment harboring the putative tumor suppressor gene(s) involved in these events, we identified a novel cDNA, DRHC (down-regulated in human cancers), that showed reduced expression in 28 of 95 (29%) cell lines derived from a variety of human cancers. The full-length cDNA, 6275 bp long, was expressed predominantly in thymus and brain. The predicted 1942-amino-acid product exhibited significant sequence homology to yeast enzymes belonging to the DEAD-helicase superfamily, and appeared to be a Uvr/Rep helicase with a DEXDc consensus domain. Transfection of a DRHC expression vector inhibited growth of cancer cells in liquid medium or soft agar. The results suggest that loss of expression of DRHC may play a role in human carcinogenesis.

  16. Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression.

    Science.gov (United States)

    McRonald, Fiona E; Liloglou, Triantafillos; Xinarianos, George; Hill, Laura; Rowbottom, Lynn; Langan, Joanne E; Ellis, Anthony; Shaw, Joan M; Field, John K; Risk, Janet M

    2006-04-15

    Tylosis (focal non-epidermolytic palmoplantar keratoderma) is an autosomal dominant skin disorder that is associated with the early onset of squamous cell oesophageal cancer (SCOC) in three families. Our previous linkage and haplotype analyses have mapped the tylosis with oesophageal cancer (TOC) locus to a 42.5 kb region on chromosome 17q25 that has also been implicated in the aetiology of sporadically occurring SCOC from a number of different geographical populations. Oesophageal cancer is one of the 10 leading causes of cancer mortality worldwide. No inherited disease-causing mutations have been identified in the genes located in the 42.5 kb minimal region. We now show that cytoglobin gene expression in oesophageal biopsies from tylotic patients is dramatically reduced by approximately 70% compared with normal oesophagus. Furthermore, both alleles are equally repressed. Given the autosomal dominant nature of the disease, these results exclude haploinsufficiency as a mechanism of the disease and instead suggest a novel trans-allele interaction. We also show that the promoter is hypermethylated in sporadic oesophageal cancer samples: this may constitute the 'second hit' of a gene previously implicated in this disease by allelic imbalance studies.

  17. Functional Consequences of 17q21.31/WNT3-WNT9B Amplification in hPSCs with Respect to Neural Differentiation

    Directory of Open Access Journals (Sweden)

    Chun-Ting Lee

    2015-02-01

    Full Text Available Human pluripotent stem cell (hPSC lines exhibit repeated patterns of genetic variation, which can alter in vitro properties as well as suitability for clinical use. We examined associations between copy-number variations (CNVs on chromosome 17 and hPSC mesodiencephalic dopaminergic (mDA differentiation. Among 24 hPSC lines, two karyotypically normal lines, BG03 and CT3, and BG01V2, with trisomy 17, exhibited amplification of the WNT3/WNT9B region and rapid mDA differentiation. In hPSC lines with amplified WNT3/WNT9B, basic fibroblast growth factor (bFGF signaling through mitogen-activated protein kinase (MAPK/ERK amplifies canonical WNT signaling by phosphorylating LRP6, resulting in enhanced undifferentiated proliferation. When bFGF is absent, noncanonical WNT signaling becomes dominant due to upregulation of SIAH2, enhancing JNK signaling and promoting loss of pluripotency. When bFGF is present during mDA differentiation, stabilization of canonical WNT signaling causes upregulation of LMX1A and mDA induction. Therefore, CNVs in 17q21.31, a “hot spot” for genetic variation, have multiple and complex effects on hPSC cellular phenotype.

  18. 8号染色体四体、三体共存的t(15;17)(q22;q12)急性早幼粒细胞白血病%Coexistence of Tetrasomy 8 and Trisomy 8 in Acute Promyelocytic Leukemia ( AML-M3 ) with t( 15; 17 ) (q22; q12 )

    Institute of Scientific and Technical Information of China (English)

    王慧萍; 李国霞; 乔振华; 任文英; 王宏伟

    2004-01-01

    This study was purposed to characterize the first case of acute promyelocitic leukemia (AML-M3a) with t( 15; 17), trisomy 8 and tetrasomy 8, and explore its characteristics of morphology, cytogenetics, molecular biology, immunology and clinical features. Morphological changes of peripheral blood and bone marrow smears were observed under microscope. Chromosome specimen was prepared by 24h short-term culture of bone marrow cell, RHG-banding technique was used for karyotypic analysis. PML-RARa fusion gene transcript was detected by nested-reverse transcription-polymerase chain reaction (nested RT-PCR). Interphase fluorescence in situ hybridization (FISH) using chromosome 8 centromere specific probe were carried out to detect abnormal numbers of chromosome 8. Immunophenotypic analysis was performed by flow cytometry. The results showed that peripheral blood smear revealed 65 % promyelocyte, and bone marrow aspirate was hypercellular with 72.4 % promyelocyte, moderately basophilic cytoplasm with numerous azurophilic granules. Karyotype analysis demonstrated 48,XY, +8, +8, t(15; 17)(q22;q12)[16]/47,XY, + 8,t(15; 17)(q22;q12) [3]/46,XY, t(15; 17) (q22;q12) [1]. RT-PCR assay revealed PML-RARa fusion gene transcript ( + ). FISH showed that the percentages of cells exhibiting 1,2,3,4,5,6 green fluorescence signals were 0.5,7,19,55, 18 and 0.5,respectively. This confirmed the presence of tetrasomy 8 and trisomy 8 and also revealed a low percentage of a pentasomy 8 clone. Immunophenotypes of the blasts displayed that CD13 (96.2%), CD33 (55.9%), CYMPO (93.5%) were positive. All the lymphoid markers tested were negative. The patient survival time was just 10 days. It is concluded that tetrasomy 8 is secondary cytogenetic event after t(15;17) in this case. It may be a consequence of clonal evolution of trisomy 8. t(15;17) AML-M3 with tetrasomy 8 heralds a poor prognosis.%本研究报道首例伴有8号染色体四体(四体8)、8号染色体三体(三体8)异常的t(15;17)

  19. Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

    DEFF Research Database (Denmark)

    Schönewolf-Greulich, Bitten; Ronan, Anne; Ravn, Kristine;

    2011-01-01

    . In this report, we describe two new 17q23.2 deletion patients with mild intellectual disability and sensorineural hearing loss. They both had submicroscopic deletions smaller than the common deleted region for the 8 previously described 17q23.2 microdeletion cases. TBX4 was previously suggested...... as the responsible gene for the heart or limb defects observed in 17q23.2 deletion patients, but the present cases do not have these features despite deletion of this gene. The finding of sensorineural hearing loss in 5 of the 10 cases, including the present cases, with a microdeletion at17q23.2, strongly suggests...... the presence of a candidate gene for hearing loss within this region. We screened 41 patients with profound sensorineural hearing loss for mutations of TBX2 and detected no mutations....

  20. Genome Wide Gene by Environment Interaction Analysis Identifies Common SNPs at 17q21.2 that Are Associated with Increased Body Mass Index Only among Asthmatics

    Science.gov (United States)

    2015-12-16

    general and abdominal weight status among Norwegian adolescents and young adults: the HUNT Study. Pediatric obesity. 2015; 10(5):345–52. doi: 10.1111...Identifies Common SNPs at 17q21.2 that Are Associated with Increased Body Mass Index Only among Asthmatics 5a. CONTRACT NUMBER 5b. GRANT...Environment Interaction Analysis Identifies Common SNPs at 17q21.2 that Are Associated with Increased Body Mass Index Only among Asthmatics LeyaoWang

  1. Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.

    Science.gov (United States)

    van Herwerden, L; Rose, C S; Reardon, W; Brueton, L A; Weissenbach, J; Malcolm, S; Winter, R M

    1994-04-01

    Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently involving digital abnormalities. We have previously provisionally assigned the gene for one such condition, Saethre-Chotzen syndrome (ACS III), to chromosome 7p. Linkage analysis is now reported between ACS III and dinucleotide repeat loci on distal 7p. The maximum lod scores, Zmax, were 5.57 at a recombination fraction of .05, with D7S488, and 4.74 at a recombination fraction of .05, with D7S493. Only weak linkage, not reaching significance, was found with distal markers (D7S513 and afm281vc9) and a proximal marker (D7S516). Multipoint analysis shows that the disease locus lies between D7S513 and D7S516. Analysis of individual recombinants shows that the most likely position is between D7S493 and D7S516. Linkage data in regard of Jackson-Weiss syndrome demonstrate that this autosomal dominant form of acrocephalosyndactyly does not map to the ACS III region on 7p or to the acrocephalosyndactyly locus on 5q (Boston type). These findings underline the genetic heterogeneity among the different clinical conditions manifesting with acrocephalosyndactyly.

  2. Evidence for locus heterogeneity in acrocephalosyndactyly: A refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p-and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q

    Energy Technology Data Exchange (ETDEWEB)

    Herwerden, L. van; Rose, C.S.P.; Reardon, W.; Malcolm, S.; Winter, R.M. (Institute of Child Health, London (United Kingdom)); Brueton, L.A. (Northwick Park Hospital, Harrow (United Kingdom)); Weissenbach, J. (Human Genome Research Centre, Evry (France))

    1994-04-01

    Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently involving digital abnormalities. The authors have previously provisionally assigned the gene for one such condition, Saethre-Chotzen syndrome (ACS III), to chromosome 7p. Linkage analysis is now reported between ACS III and dinucleotide repeat loci on distal 7p. The maximum lod scores, Z[sub max], were 5.57 at a recombination fraction of .05, with D7S488, and 4.74 at a recombination fraction of .05, with D7S493. Only weak linkage, not reaching significance, was found with distal markers (D7S513 and afm281vc9) and a proximal marker (D7S516). Multipoint analysis shows that the disease locus lies between D7S513 and D7S516. Analysis of individual recombinants shows that the most likely position is between D7S493 and D7S516. Linkage data in regard of Jackson-Weiss syndrome demonstrate that this autosomal dominant form of acrocephalosyndactyly does not map to the ACS III region on 7p or to the acrocephalosyndactyly locus on 5q (Boston type). These findings underline the genetic heterogeneity among the different clinical conditions manifesting with acrocephalosyndactyly. 20 refs., 3 figs., 2 tabs.

  3. The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.

    OpenAIRE

    1992-01-01

    Craniosynostosis or premature closure of the cranial sutures is a common abnormality occurring in about 1 in 2500 children. There is evidence of mendelian inheritance in some 20% of cases. Published reports of patients with structural alterations of the short arm of chromosome 7 have suggested that two or more genes for craniosynostosis may be situated in this region. The Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is one of the most common autosomal dominant craniosynostosis sy...

  4. Mapping of the mouse homolog of the human runt domain gene, AML2, to the distal region of mouse chromosome 4

    Energy Technology Data Exchange (ETDEWEB)

    Avraham, K.B.; Copeland, N.G.; Jenkins, N.A. [National Cancer Institute-Frederick Cancer Research and Development Center, MD (United States)] [and others

    1995-01-20

    AML2 is a runt domain belonging to a group of transcription factors that appear to play a role in Drosophila embryogenesis and mammalian oncogenic transformation. AML2 maps to human chromosome 1p36, a region involved in the t(1;3)(p36;q21) translocation found in association with myelodysplastic syndrome (MDS), myeloproliferative disease (MPD), and acute nonlymphocytic leukemia. 9 refs., 1 fig.

  5. A new three-way variant t(15;22;17)(q22;q11.2;q21) in acute promyelocytic leukemia.

    Science.gov (United States)

    Kato, Takayasu; Hangaishi, Akira; Ichikawa, Motoshi; Motokura, Toru; Takahashi, Tsuyoshi; Kurokawa, Mineo

    2009-03-01

    Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), which results in the fusion of the promyelocytic leukemia (PML) gene at 15q22 with the retinoic acid alpha-receptor (RARA) at 17q21. We report the case of a 44-year-old man with APL carrying a new complex variant translocation (15;22;17). Karyotypic analysis with G-banding of bone marrow cells revealed t(15;22;17) (q22;q11.2;q21). Fluorescence in situ hybridization with a PML/RARA dual-color DNA probe showed the fusion signals. RT-PCR analysis showed long-form PML/RARA fusion transcripts. A complete remission was attained with a course of conventional chemotherapy with all-trans retinoic acid (ATRA). This is the first report of a new three-way translocation of 22q11 involvement with APL.

  6. 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature

    DEFF Research Database (Denmark)

    Rasmussen, Maria; Vestergaard, Else Marie; Graakjaer, Jesper

    2016-01-01

    deletions and 26 phenotyped patients with 17q12 duplications. The total cohort includes 19 index patients and 19 family members. We also reviewed the literature in order to further improve the basis for the counseling. We emphasize that renal disease, learning disability, behavioral abnormalities, epilepsy......, and duodenal atresia. Delayed language development, learning disability, kidney involvement, and eye dysmorphism and strabismus were the most consistently shared features among patients with 17q12 deletion. Patients with 17q12 duplications were characterized by an extremely wide phenotypic spectrum, including...... a variable degree of learning disabilities, delayed language development, delayed motor milestones, and a broad range of psychiatric and neurological features. This patient group also included adults achieving an academic degree. Assessing index patients and non-index patients separately, our observations...

  7. Distal clavicle edema; Distales Klavikulaoedem

    Energy Technology Data Exchange (ETDEWEB)

    Vahlensieck, M.; Schmittke, I. [Radiologie Haydnhaus, Bonn (Germany); Schmidt, H.M. [Universitaet Bonn (Germany). Anatomisches Institut

    2006-07-15

    Distal clavicle marrow edema: frequency, MRI in the early stage and macroscopic correlation to the bone marrow distribution and to evaluate frequency and diagnostic criteria of a posttraumatic clavicula disorder with an edema pattern on MRI. An additional macroscopic study of the clavicle should elucidate anatomic pecularities which could explain the reaction of the distal clavicle. 285 MRI of traumatized patients were analyzed for edema pattern of the distal clavicle. Pattern A edema within the clavicle and the acromion was distinguished from pattern B edema within the clavicle only. Dissection in 20 cadavers should reveal vascular pecularities and the bone marrow distribution within clavicle and acromion or vascular pecularities. In 38 patients (13,3%) we found edema within the distal clavicle. Pattern A was found in 28 (9,8%) and pattern B in 10 patients (3,5%). Pattern A was usually associated with swelling of the AC joint (27 out of 28). Other injuries were not evident. 18 cadavers showed hematopoetic marrow within the distal clavicle and fatty marrow within the acromion. The distale clavicle can frequently react with edema pattern after trauma without evidence for another injury. Distinguish in cases with and cases without synovitis of the AC joint could have impact on therapy. A peculier vascular supply of the distal clavicle could not be found. (orig.) [German] Bestimmung der Haeufigkeit und diagnostischer Kriterien einer posttraumatischen Klavikulaerkrankung, die mit einem MR-tomographischen Oedemmuster auffaellt. Makroskopische Besonderheiten der Markhoehle sollten gesucht werden, die die besondere Reaktionsform der distalen Klavikula mit erklaeren koennten. 285 Patienten mit traumaassoziierten, zeitversetzt nach dem Unfallereignis bestehenden Schulterbeschwerden, wurden auf MR-tomographische Oedemmuster in der distalen Klavikula untersucht. Das Oedemmuster wurde in ''Klavikula allein'' (Muster B) und ''mit Beteiligung des

  8. Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics.

    Science.gov (United States)

    Veerappa, Avinash M; Saldanha, Marita; Padakannaya, Prakash; Ramachandra, Nallur B

    2014-10-01

    Developmental dyslexia (DD) is a complex heritable disorder with unexpected difficulty in learning to read and spell despite adequate intelligence, education, environment, and normal senses. We performed genome-wide screening for copy number variations (CNVs) in 10 large Indian dyslexic families using Affymetrix Genome-Wide Human SNP Array 6.0. Results revealed the complex genomic rearrangements due to one non-contiguous deletion and five contiguous micro duplications and micro deletions at 17q21.31 region in three dyslexic families. CNVs in this region harbor the genes KIAA1267, LRRC37A, ARL17A/B, NSFP1, and NSF. The CNVs in case 1 and case 2 at this locus were found to be in homozygous state and case 3 was a de novo CNV. These CNVs were found with at least one CNV having a common break and end points in the parents. This cluster of genes containing NSF is implicated in learning, cognition, and memory, though not formally associated with dyslexia. Molecular network analysis of these and other dyslexia related module genes suggests NSF and other genes to be associated with cellular/vesicular membrane fusion and synaptic transmission. Thus, we suggest that NSF in this cluster would be the nearest gene responsible for the learning disability phenotype.

  9. The Koolen-de Vries syndrome : A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

    NARCIS (Netherlands)

    Koolen, David A.; Pfundt, Rolph; Linda, Katrin; Beunders, Gea; Veenstra-Knol, Hermine E.; Conta, Essie H.; Fortuna, Ana Maria; Gillessen-Kaesbach, Gabriele; Dugan, Sarah; Halbach, Sara; Abdul-Rahman, Omar A.; Winesett, Heather M.; Chung, Wendy K.; Dalton, Marguerite; Dimova, Petia S.; Mattina, Teresa; Prescott, Katrina; Zhang, Hui Z.; Saal, Howard M.; Hehir-Kwa, Jayne Y.; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Jongmans, Marjolijn C.; Van Der Aa, Nathalie; Failla, Pinella; Barone, Concetta; Avola, Emanuela; Brooks, Alice S.; Kant, Sarina G.; Gerkes, Erica H.; Firth, Helen V.; Unap, Katrin; Bird, Lynne M.; Masser-Frye, Diane; Friedman, Jennifer R.; Sokunbi, Modupe A.; Dixit, Abhijit; Splitt, Miranda; Kukolich, Mary K.; McGaughran, Julie; Coe, Bradley P.; Flórez, Jess; Nadif Kasr, Nael; Brunner, Han G.; Thompson, Elizabeth M.; Gecz, Jozef; Romano, Corrado; Eichler, Evan E.; De Vries, Bert B A

    2016-01-01

    The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language develo

  10. Acute promyelocytic leukaemia with translocation of t(11;17(q23;q21: a case report and review of literature

    Directory of Open Access Journals (Sweden)

    Xiao-li CHANG

    2013-05-01

    Full Text Available Objective  To study the clinical attributes, treatment and prognosis of acute promyelocytic leukaemia (APL with translocation of t(11;17(q23;q21. Methods  A case of APL with t(11;17(q23;q21 was reported, and the cytomorphology, immunology, cytogenetics and molecular genetics of the patient were analyzed. The related literature published in recent 20 years domestically and abroad was reviewed. Results  The case herewith studied was a male patient aged 35 years with leucocyte count (WBC of 38.17×109 in peripheral blood, and 88.5% of promyelocytes in bone marrow. Marrow karyotype analysis showed 46, XY, t(11;17(q23;q21 and PLZF-RARA rearrangement was detected. The patient was definitely diagnosed as APL with t(11;17 (q23;q21. Complete morphological and genetic remission was achieved after a combined chemotherapy of As2O3 and ATRA, then a molecular biological remission was achieved after the treatment of 3 courses of large dose cytarabine. The patient was followed up to February 2013 with disease-free survival of nearly 10 months. Up to date, 20 cases of APL with t(11;17(q23;q21 have been reported domestically and abroad, and their clinical attributes were reviewed. For the 20 cases, the mean age was 48.9±16.3 years and the male/female ratio was 9:1. Among the patients, males aged over 45 years accounted for 55%, implying that the elderly males may be high-risk population. The incidence of DIC was 60%, most of which got poor curative effect of ATRA. Conclusion  APL with t(11;17(q23;q21 is a very rare illness with distinct morphological changes and clinical characteristics. Prolonged combined chemotherapy with As2O3 and ATRA with large dose cytarabine may be beneficial to attain a remission and prolong survival.

  11. Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12

    NARCIS (Netherlands)

    Smigiel, R.; Marcelis, C.L.M.; Patkowski, D.; Leeuw, N. de; Bednarczyk, D.; Barg, E.; Mascianica, K.; Maria Sasiadek, M.; Brunner, H.G.

    2014-01-01

    Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromi

  12. Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12

    NARCIS (Netherlands)

    Smigiel, R.; Marcelis, C.L.M.; Patkowski, D.; Leeuw, N. de; Bednarczyk, D.; Barg, E.; Mascianica, K.; Maria Sasiadek, M.; Brunner, H.G.

    2014-01-01

    Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromi

  13. Secondary chromosomal changes in 34 Philadelphia-chromosome-positive chronic myelocytic leukemia patients from the Mexican West.

    Science.gov (United States)

    Meza Espinoza, Juan Pablo; Judith Picos Cárdenas, Verónica; Gutiérrez-Angulo, Melva; González García, Juan Ramón

    2004-01-15

    The clonal evolution in t(9;22)-positive chronic myelocytic leukemia (CML) is well established. Four major changes occur in more than 70% of patients: +8, i(17q), +19, and an extra Philadelphia chromosome. The frequencies of secondary chromosomal changes in 34 patients from the states of Jalisco, Nayarit, Michoacán, and Colima (the Mexican West) with Philadelphia-chromosome-positive CML were assessed. The most frequent abnormalities were tetraploidy (12 cases); +8, inv(3)(q21q26), and octoploidy (3 cases each); and +der(22)(2 cases). Some translocations not previously associated with CML were observed, such as t(2;7)(p12;q36), t(3;6)(q26;p25), t(3;17)(q26;p13), and t(6;17)(q21;q23 approximately q25). Significant differences were found for +8 with respect to population results from Japan and from southern, eastern, and western Europe; for i(17)(q10) from eastern Europe; for +19 from Japan and western Europe; and for +der(22) from Japan, southern Europe, and western Europe. Although polyploidy could result from endomitosis, there is no direct evidence that the BCR/ABL protein influences such a process; however, protein kinases such as MAPK, which are involved in endomitosis, are activated by the BCR/ABL protein, and so the BCR/ABL protein could promote endomitosis through the MAPK pathway.

  14. Case report of isochromosome 17q in acute myeloid leukemia with myelodysplasia-related changes after treatment with a hypomethylating agent.

    Science.gov (United States)

    Sousa, J C; Germano, R T; Castro, C C M; Magalhaes, S M M; Pinheiro, R F

    2012-08-06

    Isochromosome 17q is a relatively common karyotypic abnormality in medulloblastoma, gastric, bladder, and breast cancers. In myeloid disorders, it is observed during disease progression and evolution to acute myeloid leukemia in Philadelphia-positive chronic myeloid leukemia. It has been reported in rare cases of myelodysplastic syndrome, with an incidence of 0.4-1.57%. Two new agents have been approved for treatment of myelodysplastic syndrome/chronic myelomonocytic leukemia. These are the hypomethylating agents, 5-azacytidine and decitabine, recommended by consensus guidelines for high-risk myelodysplastic syndrome patients not eligible for hematopoietic stem cell transplantation. We present a case of chronic myelomonocytic leukemia with normal cytogenetics at diagnosis treated with decitabine (with good response); however, the patient evolved to acute myeloid leukemia with i(17q) shortly after suspending treatment. To the best of our knowledge, this is the first report of acute myeloid leukemia with myelodysplasia-related changes with i(17q) after the use of a hypomethylating agent.

  15. Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder

    DEFF Research Database (Denmark)

    Rajkumar, A.P.; Christensen, Jane H.; Mattheisen, Manuel

    2015-01-01

    ,856) data. Genetic associations between these disorders and single nucleotide polymorphisms within these breakpoint regions were analysed by BioQ, FORGE, and RegulomeDB programmes. RESULTS: Four protein-coding genes [coding for (endonuclease V (ENDOV), neuronal pentraxin I (NPTX1), ring finger protein 213...

  16. Localization of the gene for sclerosteosis to the van Buchem Disease-gene region on chromosome 17q12-q21

    NARCIS (Netherlands)

    Balemans, W; Van Den Ende, J; Paes-Alves, AF; Dikkers, FG; Willems, PJ; Vanhoenacker, F; de Almeida-Melo, N; Alves, CF; Stratakis, CA; Hill, SC; Van Hul, W

    1999-01-01

    Sclerosteosis is an uncommon, autosomal recessive, progressive, sclerosing, bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible. In most patients this causes facial paralysis and hearing loss. Other features are giganti

  17. Distal renal tubular acidosis

    Science.gov (United States)

    Renal tubular acidosis - distal; Renal tubular acidosis type I; Type I RTA; RTA - distal; Classical RTA ... excreting it into the urine. Distal renal tubular acidosis (Type I RTA) is caused by a defect ...

  18. Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene.

    Science.gov (United States)

    Langan, Joanne E; Cole, Charlotte G; Huckle, Elisabeth J; Byrne, Shaun; McRonald, Fiona E; Rowbottom, Lynn; Ellis, Anthony; Shaw, Joan M; Leigh, Irene M; Kelsell, David P; Dunham, Ian; Field, John K; Risk, Janet M

    2004-05-01

    Tylosis (focal non-epidermolytic palmoplantar keratoderma) is associated with the early onset of squamous cell oesophageal cancer in three families. Linkage and haplotype analyses have previously mapped the tylosis with oesophageal cancer ( TOC) locus to a 500-kb region on chromosome 17q25 that has also been implicated in sporadically occurring squamous cell oesophageal cancer. In the current study, 17 additional putative microsatellite markers were identified within this 500-kb region by using sequence data and seven of these were shown to be polymorphic in the UK and US families. In addition, our complete sequence analysis of the non-repetitive parts of the TOC minimal region identified 53 novel and six known single nucleotide polymorphisms (SNPs) in one or both of these families. Further fine mapping of the TOC disease locus by haplotype analysis of the seven polymorphic markers and 21 of the 59 SNPs allowed the reduction of the minimal region to 42.5 kb. One known and two putative genes are located within this region but none of these genes shows tylosis-specific mutations within their protein-coding regions. Alternative mechanisms of disease gene action must therefore be considered.

  19. Barret's adenocarcinomas resemble adenocarcinomas of the gastric cardia in terms of chromosomal copy number changes, but relate to squamous cell carcinomas of the distal oesophagus with respect to the presence of high-level amplifications

    NARCIS (Netherlands)

    M.M. Weiss (Marjan); E.J. Kuipers (Ernst); M.A.J.A. Hermsen (Mario); N.C.T. Grieken (Nicole); G.J.A. Offerhaus (Johan); J.P.A. Baak (Jan); S.G.M. Meuwissen; C.J.L.M. Meijer (Chris)

    2003-01-01

    textabstractThree different cancers predominantly occur at the gastro-oesophageal junction: squamous cell carcinomas of the distal oesophagus, adenocarcinomas of the distal oesophagus (Barrett's carcinomas), and adenocarcinomas of the gastric cardia. The aim of the present study was to investigate

  20. Milestone Completion Report WBS 1.3.5.05 ECP/VTK-m FY17Q3 [MS-17/02] Faceted Surface Normals STDA05-3.

    Energy Technology Data Exchange (ETDEWEB)

    Moreland, Kenneth D. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

    2017-07-01

    The FY17Q3 milestone of the ECP/VTK-m project includes the completion of a VTK-m filter that computes normal vectors for surfaces. Normal vectors are those that point perpendicular to the surface and are an important direction when rendering the surface. The implementation includes the parallel algorithm itself, a filter module to simplify integrating it into other software, and documentation in the VTK-m Users’ Guide. With the completion of this milestone, we are able to necessary information to rendering systems to provide appropriate shading of surfaces. This milestone also feeds into subsequent milestones that progressively improve the approximation of surface direction.

  1. Partial deletion of long arm of chromosome 17

    Energy Technology Data Exchange (ETDEWEB)

    Golomb, H.M. (Univ. of Chicago, IL); Rowley, J.; Vardiman, J.; Baron, J.; Locker, G.; Krasnow, S.

    1976-07-01

    Two patients with acute promyelocytic leukemia had an identical chromosomal abnormality detected by fluorescence banding. In each case, the clinical course was rapidly fatal, and was characterized by a lack of response to chemotherapy with cytarabine and thioguanine, and was complicated by disseminated intravascular coagulation. Bone marrow cells from each patient contained 46 chromosomes; in each instance, however, one chromosome 17 had a deletion of almost one half of the proximal portion of the long arm (del(17)(q11q21 or 22)).

  2. Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study

    DEFF Research Database (Denmark)

    Lee, J. H.; Cheng, R.; Honig, L. S.

    2014-01-01

    additional novel loci with HLOD scores exceeding three, including 4.77 for 17q23.2, and 4.36 for 10q11.21. These two loci harbor a number of novel candidate genes with SNPs, and our gene-wise association analysis identified multiple genes, including DCAF7, POLG2, CEP95, and SMURF2 at 17q23.2; and RASGEF1A...

  3. Molecular genetics of distal hereditary motor neuropathies.

    Science.gov (United States)

    Irobi, Joy; De Jonghe, Peter; Timmerman, Vincent

    2004-10-01

    Inherited peripheral neuropathies comprise a wide variety of diseases primarily affecting the peripheral nervous system. The best-known peripheral neuropathy is Charcot-Marie-Tooth disease (CMT) described in 1886 by J.-M. Charcot, P. Marie and H.H. Tooth. In 1980, A.E. Harding and P.K. Thomas showed that in a large group of individuals with CMT, several only had motor abnormalities on clinical and electrophysiological examination, whereas sensory abnormalities were absent. This exclusively motor variant of CMT was designated as spinal CMT or hereditary distal spinal muscular atrophy, and included in the distal hereditary motor neuropathies (distal HMN). The distal HMN are clinically and genetically heterogeneous and are subdivided according to the mode of inheritance, age at onset and clinical evolution. Since the introduction of positional cloning, 12 chromosomal loci and seven disease-causing genes have been identified for autosomal dominant and recessive distal HMN. Most of the genes involved have housekeeping functions, as in RNA processing, translation synthesis, glycosylation, stress response, apoptosis, but also axonal trafficking and editing. Functional characterization of the mutations will help to unravel the cellular processes that underlie the specificity of motor neuropathies leading to neurogenic muscular atrophy of distal limb muscles. Here we review the recent progress of the molecular genetics of distal HMN and discuss the genes implicated.

  4. Distal Biceps Tendon Rupture

    Science.gov (United States)

    2010-06-01

    distal tendon . Although these findings overlap with those seen in tendinopathy , the presence of bone marrow edema at the radial tuberosity and fluid in...the bicipitoradial bursa suggests a partial tear rather than tendinopathy .3 When the distal biceps tendon tear is complete, MR imaging shows...Distal Biceps Tendon Rupture Military Medicine Radiology Corner, 2006 Radiology Corner Distal Biceps Tendon Rupture Contributors: CPT Michael

  5. NPM-RAR, not the RAR-NPM reciprocal t(5;17)(q35;q21) acute promyelocytic leukemia fusion protein, inhibits myeloid differentiation.

    Science.gov (United States)

    Pollock, Sheri L; Rush, Elizabeth A; Redner, Robert L

    2014-06-01

    The t(5;17) variant of acute promyelocytic leukemia (APL) fuses the nucleophosmin (NPM) gene at 5q35 with the retinoic acid receptor alpha (RARA) at 17q12-22. We have previously shown that leukemic cells express both NPM-RAR and RAR- NPM reciprocal translocation products. In this study we investigated the potential role of both proteins in modulating myeloid differentiation. Expression of NPM-RAR inhibited vitamin D3/transforming growth factor β (TGFβ)-mediated differentiation of U937 cells by more than 50%. In contrast, RAR-NPM expression did not alter vitamin D3/TGFβ-induced differentiation of U937 clones. These results indicate that NPM-RAR, not RAR-NPM, is the prime mediator of myeloid differentiation arrest in t(5;17) APL.

  6. An epigenetic signature in peripheral blood associated with the haplotype on 17q21.31, a risk factor for neurodegenerative tauopathy.

    Directory of Open Access Journals (Sweden)

    Yun Li

    2014-03-01

    Full Text Available Little is known about how changes in DNA methylation mediate risk for human diseases including dementia. Analysis of genome-wide methylation patterns in patients with two forms of tau-related dementia--progressive supranuclear palsy (PSP and frontotemporal dementia (FTD--revealed significant differentially methylated probes (DMPs in patients versus unaffected controls. Remarkably, DMPs in PSP were clustered within the 17q21.31 region, previously known to harbor the major genetic risk factor for PSP. We identified and replicated a dose-dependent effect of the risk-associated H1 haplotype on methylation levels within the region in blood and brain. These data reveal that the H1 haplotype increases risk for tauopathy via differential methylation at that locus, indicating a mediating role for methylation in dementia pathophysiology.

  7. Local genotype influences DNA methylation at two asthma-associated regions, 5q31 and 17q21, in a founder effect population.

    Science.gov (United States)

    Al Tuwaijri, Abeer; Gagné-Ouellet, Valérie; Madore, Anne-Marie; Laprise, Catherine; Naumova, Anna K

    2016-04-01

    Two asthma-associated regions 17q12-q21 and 5q31.1 harbour genes that show strong effect of genotype on expression levels. DNA methylation has an important role in gene regulation; therefore, we examined DNA methylation at promoters of 12 genes from 5q31 and 17q12-q21 regions. Our goal was to determine whether DNA methylation was associated with predisposition to asthma and whether such a relationship was independent from genetic association. Using sodium bisulfite sequencing and pyrosequencing methylation assays, we examined the effect of genotype on DNA methylation in peripheral blood cells from individuals from the Saguenay-Lac-Saint-Jean asthma familial collection and lymphoblastoid cell lines. The local genotype influenced methylation levels of solute carrier family 22 (organic 3 cation/carnitine transporter) member 5 (SLC22A5), zona pellucida binding protein 2 (ZPBP2) and gasdermin A (GSDMA) promoter regions. The genotype had a dominant effect on ZPBP2 and GSDMA methylation with lower methylation levels in individuals that carry the asthma-predisposing alleles. Males also had lower methylation at the ZPBP2 promoter than females. We did not observe an effect of asthma status that would be independent of the genotype and the sex effects in the GSDMA, ZPBP2 and SLC22A5 regions; however, GSDMA and ZPBP2 data were suggestive of interaction between asthma and methylation levels in females and SLC22A5 in males. The local genotype influences methylation levels at SLC22A5 and ZPBP2 promoters independently of the asthma status. Further studies are necessary to confirm the relationship between GSDMA-ZPBP2 and SLC22A5 methylation and asthma in females and males separately. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  8. Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism.

    Science.gov (United States)

    Vazna, Alzbeta; Havlovicova, Marketa; Sedlacek, Zdenek

    2008-01-15

    The breakpoint junction on a ring chromosome 17 in a girl with autism, mental retardation, mild dysmorphism and neurofibromatosis was identified and analysed at the nucleotide level. The extent of the deleted segments was about 1.9 Mb on 17p and about 1.0 Mb on 17q. The structure of the junction between the 17p and 17q arms, especially the lack of significant homology between the juxtaposed genomic regions and the presence of short microhomology at the junction site, indicated non-homologous end joining as the most likely mechanism leading to the rearrangement. In addition to the 17p-17q junction itself, a de novo 1 kb deletion in a distance of 400 bp from the junction was identified, which arose most likely as a part of the rearrangement. The defect directly inactivated 3 genes, and the deleted terminal chromosome segments harboured 27 and 14 protein-coding genes from 17p and 17q, respectively. Several of the genes affected by the rearrangement are candidates for the symptoms observed in the patient. Additional rearrangements similar to the 1 kb deletion observed in our patient may remain undetected but can participate in the phenotype of patients with chromosomal aberrations. They can also be the reason for repeated failures to clone breakpoint junctions in other patients described in the literature.

  9. High-resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization

    Energy Technology Data Exchange (ETDEWEB)

    Inazawa, Johji; Ariyama, Takeshi; Abe, Tatsuo (Kyoto Prefectual Univ. of Medicine (Japan)); Saito, Hiroko; Nakamura, Yusuke (Cancer Institute, Tokyo (Japan))

    1993-07-01

    The authors have constructed a high-resolution cytogenetic map of human chromosome 17 with 342 cosmid markers, each newly isolated from a cosmid library constructed from a human-mouse hybrid cell line containing a single human chromosome 17. Direct mapping on R- and/or G-banded (pro)metaphase chromosomes by fluorescence in situ hybridization localized these markers throughout the chromosome, although density was highest in the R-band-dominant regions of 17p13, 17p11.2, 17q11.2-q12, 17q21.3, 17q23, and 17q25. By screening some of the cosmid clones, they identified 71 polymorphic systems with 43 markers; 11 of these are VNTRs. As the high-resolution cytogenetic map contains a large number of markers, it can provide useful landmarks for a contig map of chromosome 17. Furthermore, the map will contribute to positional cloning of aberrant genes responsible for inherited diseases such as Miller-Dieker syndrome (MDS), Smith-Magenis syndrome (SMS), and familial early-onset breast cancer, as well as putative tumor suppressor genes on this chromosome. 47 refs., 2 figs., 2 tabs.

  10. Localization of the human achaete-scute homolog gene (ASCL 1) distal to phenylalanine hydroxylase (PAH) and proximal to tumor rejection antigen (TRA 1) on chromosome 12q22-q23

    Energy Technology Data Exchange (ETDEWEB)

    Renault, B.; Kucherlapati, R.; Krauter, K. [Albert Einstein College of Medicine, Bronx, NY (United States); Lieman, J.; Ward, D. [Yale Univ. School of Medicine, New Haven, CT (United States)

    1995-11-01

    ASCL1, the human achaete-scute homolog, is a helix-loop-helix transcription factor that was previously assigned to chromosome 12 using a rodent-human somatic hybrid panel. We now placed this gene on a yeast artificial chromosome contig encompassing position 119 cM of the Genethon genetic map between the two genes phenylalanine hydroxylase (PAH) and tumor rejection antigen 1 (TRA1). We also localized ASCL1 in the 12q22-q23 cytogenetic interval by using fluorescence in situ hybridization. 13 refs., 2 figs.

  11. Distal and non-distal NIP theories

    CERN Document Server

    Simon, Pierre

    2011-01-01

    We study one way in which stable phenomena can exist in an NIP theory. We start by defining a notion of 'pure instability' that we call 'distality' in which no such phenomenon occurs. O-minimal theories and the p-adics for example are distal. Next, we try to understand what happens when distality fails. Given a type p over a sufficiently saturated model, we extract, in some sense, the stable part of p and define a notion of stable-independence which is implied by non-forking and has bounded weight. As an application, we show that the expansion of a model by traces of externally definable sets from some adequate indiscernible sequence eliminates quantifiers.

  12. Distal nail embbeding

    Directory of Open Access Journals (Sweden)

    Patricia Chang

    2014-01-01

    Full Text Available Male patient, 35 years old who came to dermatological consultation due to contact dermatitis on back, during his clinical examination alterations of his digits was seen. Dermatological examination reveals a rim of tissue at the distal edge of the nail of both big toenails and thickened nails (Fig.1a – c, 2a, b. Both big toenails were removed due to ingrown nails two times. Diagnosis of distal nail embedding was done. Distal nail embedding is a rim of tissue at the distal edge of the nail. Causes can de acquired or congenital.

  13. Pictorial essay: Distal colostography

    Directory of Open Access Journals (Sweden)

    Rahalkar Mukund

    2010-01-01

    Full Text Available Distal colostography (DC, also called distal colography or loopography, is an important step in the reparative management of anorectal malformations (ARMs with imperforate anus, Hirschsprung′s disease (occasionally and colonic atresia (rarely in children and obstructive disorders of the distal colon (colitis with stricture, carcinoma or complicated diverticulosis in adults. It serves to identify/confirm the type of ARM, presence/absence of fistulae, leakage from anastomoses, or patency of the distal colon. We present a pictorial essay of DC in a variety of cases.

  14. Sequential cloning of chromosomes

    Science.gov (United States)

    Lacks, S.A.

    1995-07-18

    A method for sequential cloning of chromosomal DNA of a target organism is disclosed. A first DNA segment homologous to the chromosomal DNA to be sequentially cloned is isolated. The first segment has a first restriction enzyme site on either side. A first vector product is formed by ligating the homologous segment into a suitably designed vector. The first vector product is circularly integrated into the target organism`s chromosomal DNA. The resulting integrated chromosomal DNA segment includes the homologous DNA segment at either end of the integrated vector segment. The integrated chromosomal DNA is cleaved with a second restriction enzyme and ligated to form a vector-containing plasmid, which is replicated in a host organism. The replicated plasmid is then cleaved with the first restriction enzyme. Next, a DNA segment containing the vector and a segment of DNA homologous to a distal portion of the previously isolated DNA segment is isolated. This segment is then ligated to form a plasmid which is replicated within a suitable host. This plasmid is then circularly integrated into the target chromosomal DNA. The chromosomal DNA containing the circularly integrated vector is treated with a third, retrorestriction (class IIS) enzyme. The cleaved DNA is ligated to give a plasmid that is used to transform a host permissive for replication of its vector. The sequential cloning process continues by repeated cycles of circular integration and excision. The excision is carried out alternately with the second and third enzymes. 9 figs.

  15. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

    DEFF Research Database (Denmark)

    Darabi, Hatef; Beesley, Jonathan; Droit, Arnaud

    2016-01-01

    Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (i......COGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates...... for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2...

  16. Electroexcitation of the Roper resonance for 1.7 < Q**2 < 4.5 -GeV2 in vec-ep ---> en pi+

    Energy Technology Data Exchange (ETDEWEB)

    Aznauryan, Inna; Burkert, Volker; Kim, Wooyoung; Park, Kil; Adams, Gary; Amaryan, Moscov; Amaryan, Moskov; Ambrozewicz, Pawel; Anghinolfi, Marco; Asryan, Gegham; Avagyan, Harutyun; Bagdasaryan, H.; Baillie, Nathan; Ball, J.P.; Ball, Jacques; Baltzell, Nathan; Barrow, Steve; Batourine, V.; Battaglieri, Marco; Bedlinskiy, Ivan; Bektasoglu, Mehmet; Bellis, Matthew; Benmouna, Nawal; Berman, Barry; Biselli, Angela; Blaszczyk, Lukasz; Bonner, Billy; Bookwalter, Craig; Bouchigny, Sylvain; Boyarinov, Sergey; Bradford, Robert; Branford, Derek; Briscoe, Wilbert; Brooks, William; Bultmann, S.; Bueltmann, Stephen; Butuceanu, Cornel; Calarco, John; Careccia, Sharon; Carman, Daniel; Casey, Liam; Cazes, Antoine; Chen, Shifeng; Cheng, Lu; Cole, Philip; Collins, Patrick; Coltharp, Philip; Cords, Dieter; Corvisiero, Pietro; Crabb, Donald; Crede, Volker; Cummings, John; Dale, Daniel; Dashyan, Natalya; De Masi, Rita; De Vita, Raffaella; De Sanctis, Enzo; Degtiarenko, Pavel; Denizli, Haluk; Dennis, Lawrence; Deur, Alexandre; Dhamija, Seema; Dharmawardane, Kahanawita; Dhuga, Kalvir; Dickson, Richard; Djalali, Chaden; Dodge, Gail; Donnelly, J.; Doughty, David; Dugger, Michael; Dytman, Steven; Dzyubak, Oleksandr; Egiyan, Hovanes; Egiyan, Kim; Elfassi, Lamiaa; Elouadrhiri, Latifa; Eugenio, Paul; Fatemi, Renee; Fedotov, Gleb; Feldman, Gerald; Feuerbach, Robert; Forest, Tony; Fradi, Ahmed; Funsten, Herbert; Gabrielyan, Marianna; Garcon, Michel; Gavalian, Gagik; Gevorgyan, Nerses; Gilfoyle, Gerard; Giovanetti, Kevin; Girod, Francois-Xavier; Goetz, John; Gohn, Wesley; Golovach, Evgeny; Gonenc, Atilla; Gordon, Christopher; Gothe, Ralf; Graham, L.; Griffioen, Keith; Guidal, Michel; Guillo, Matthieu; Guler, Nevzat; Guo, Lei; Gyurjyan, Vardan; Hadjidakis, Cynthia; Hafidi, Kawtar; Hafnaoui, Khadija; Hakobyan, Hayk; Hakobyan, Rafael; Hanretty, Charles; Hardie, John; Hassall, Neil; Heddle, David; Hersman, F.; Hicks, Kenneth; Hleiqawi, Ishaq; Holtrop, Maurik; Hyde, Charles; Ilieva, Yordanka; Ireland, David; Ishkhanov, Boris; Isupov, Evgeny; Ito, Mark; Jenkins, David; Jo, Hyon-Suk; Johnstone, John; Joo, Kyungseon; Juengst, Henry; Kalantarians, Narbe; Keller, Dustin; Kellie, James; Khandaker, Mahbubul; Kim, Kui; Klein, Andreas; Klein, Andreas; Klimenko, Alexei; Kossov, Mikhail; Krahn, Zebulun; Kramer, Laird; Kubarovsky, Valery; Kuhn, Joachim; Kuhn, Sebastian; Kuleshov, Sergey; Kuznetsov, Viacheslav; Lachniet, Jeff; Laget, Jean; Langheinrich, Jorn; Lawrence, Dave; Lee, T.; Lima, Ana; Livingston, Kenneth; Lu, Haiyun; Lukashin, Konstantin; MacCormick, Marion; Markov, Nikolai; Mattione, Paul; McAleer, Simeon; McKinnon, Bryan; McNabb, John; Mecking, Bernhard; Mehrabyan, Surik; Melone, Joseph; Mestayer, Mac; Meyer, Curtis; Mibe, Tsutomu; Mikhaylov, Konstantin; Minehart, Ralph; Mirazita, Marco; Miskimen, Rory; Mokeev, Viktor; Morand, Ludyvine; Moreno, Brahim; Moriya, Kei; Morrow, Steven; Moteabbed, Maryam; Mueller, James; Munevar Espitia, Edwin; Mutchler, Gordon; Nadel-Turonski, Pawel; Nasseripour, Rakhsha; Niccolai, Silvia; Niculescu, Gabriel; Niculescu, Maria-Ioana; Niczyporuk, Bogdan; Niroula, Megh; Niyazov, Rustam; Nozar, Mina; O' Rielly, Grant; Osipenko, Mikhail; Ostrovidov, Alexander; Park, S.; Pasyuk, Evgueni; Paterson, Craig; Anefalos Pereira, S.; Philips, Sasha; Pierce, Jerome; Pivnyuk, Nikolay; Pocanic, Dinko; Pogorelko, Oleg; Polli, Ermanno; Popa, Iulian; Pozdnyakov, Sergey; Preedom, Barry; Price, John; Prok, Yelena; Protopopescu, Dan; Qin, Liming; Raue, Brian; Riccardi, Gregory; Ricco, Giovanni; Ripani, Marco; Ritchie, Barry; Rosner, Guenther; Rossi, Patrizia; Rowntree, David; Rubin, Philip; Sabatie, Franck; Saini, Mukesh; Salamanca, Julian; Salgado, Carlos; Santoro, Joseph; Sapunenko, Vladimir; Schott, Diane; Schumacher, Reinhard; Serov, Vladimir; Sharabian, Youri; Sharov, Dmitri; Shaw, J.; Shvedunov, Nikolay; Skabelin, Alexander; Smith, Elton; Smith, Lee; Sober, Daniel; Sokhan, Daria; Stavinskiy, Aleksey; Stepanyan, Samuel; Stepanyan, Stepan; Stokes, Burnham

    2008-10-01

    DOI: http://dx.doi.org/10.1103/PhysRevC.78.045209
    The helicity amplitudes of the electroexcitation of the Roper resonance are extracted for 1.7 < Q2 < 4.5 GeV2 from recent high precision JLab-CLAS cross section and longitudinally polarized beam asymmetry data for pi+ electroproduction on protons at W=1.15-1.69 GeV. The analysis is made using two approaches, dispersion relations and a unitary isobar model, which give consistent results. It is found that the transverse helicity amplitude A_{1/2} for the gamma* p -> N(1440)P11 transition, which is large and negative at Q2=0, becomes large and positive at Q2 ~ 2 GeV2, and then drops slowly with Q2. The longitudinal helicity amplitude S_{1/2}, which was previously found from CLAS ep -> eppi0,enpi+ data to be large and positive at Q2=0.4,0.65 GeV2, drops with Q2. Available model predictions for gamma* p -> N(1440)P11 allow us to conclude that these results provide strong evidence in favor of N(1440)P11 as a first radial excitation of

  17. Sequential cloning of chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Lacks, S.A.

    1991-12-31

    A method for sequential cloning of chromosomal DNA and chromosomal DNA cloned by this method are disclosed. The method includes the selection of a target organism having a segment of chromosomal DNA to be sequentially cloned. A first DNA segment, having a first restriction enzyme site on either side. homologous to the chromosomal DNA to be sequentially cloned is isolated. A first vector product is formed by ligating the homologous segment into a suitably designed vector. The first vector product is circularly integrated into the target organism`s chromosomal DNA. The resulting integrated chromosomal DNA segment includes the homologous DNA segment at either end of the integrated vector segment. The integrated chromosomal DNA is cleaved with a second restriction enzyme and ligated to form a vector-containing plasmid, which is replicated in a host organism. The replicated plasmid is then cleaved with the first restriction enzyme. Next, a DNA segment containing the vector and a segment of DNA homologous to a distal portion of the previously isolated DNA segment is isolated. This segment is then ligated to form a plasmid which is replicated within a suitable host. This plasmid is then circularly integrated into the target chromosomal DNA. The chromosomal DNA containing the circularly integrated vector is treated with a third, retrorestriction enzyme. The cleaved DNA is ligated to give a plasmid that is used to transform a host permissive for replication of its vector. The sequential cloning process continues by repeated cycles of circular integration and excision. The excision is carried out alternately with the second and third enzymes.

  18. Distal Radius Fracture (Broken Wrist)

    Science.gov (United States)

    .org Distal Radius Fracture (Broken Wrist) Page ( 1 ) The radius is the larger of the two bones of the forearm. The ... the distal end. A fracture of the distal radius occurs when the area of the radius near ...

  19. Transphyseal Distal Humerus Fracture.

    Science.gov (United States)

    Abzug, Joshua; Ho, Christine Ann; Ritzman, Todd F; Brighton, Brian

    2016-01-01

    Transphyseal distal humerus fractures typically occur in children younger than 3 years secondary to birth trauma, nonaccidental trauma, or a fall from a small height. Prompt and accurate diagnosis of a transphyseal distal humerus fracture is crucial for a successful outcome. Recognizing that the forearm is not aligned with the humerus on plain radiographs may aid in the diagnosis of a transphyseal distal humerus fracture. Surgical management is most commonly performed with the aid of an arthrogram. Closed reduction and percutaneous pinning techniques similar to those used for supracondylar humerus fractures are employed. Cubitus varus caused by a malunion, osteonecrosis of the medial condyle, or growth arrest is the most common complication encountered in the treatment of transphyseal distal humerus fractures. A corrective lateral closing wedge osteotomy can be performed to restore a nearly normal carrying angle.

  20. Giant distal humeral geode

    Energy Technology Data Exchange (ETDEWEB)

    Maher, M.M. [Department of Radiology, Mater Misericordiae Hospital, Dublin (Ireland); Department of Radiology, St. Vincent' s Hospital, Elm Park, Dublin 4 (Ireland); Kennedy, J.; Hynes, D. [Department of Orthopaedics, Mater Misericordiae Hospital, Dublin (Ireland); Murray, J.G.; O' Connell, D. [Department of Radiology, Mater Misericordiae Hospital, Dublin (Ireland)

    2000-03-30

    We describe the imaging features of a giant geode of the distal humerus in a patient with rheumatoid arthritis, which presented initially as a pathological fracture. The value of magnetic resonance imaging in establishing this diagnosis is emphasized. (orig.)

  1. Distal splenorenal shunt

    Science.gov (United States)

    ... path. As a result, swollen blood vessels called varices form. They develop thin walls that can break ... or x-rays show that you have bleeding varices. Distal splenorenal shunt surgery reduces pressure on the ...

  2. The gamma fibrinogen gene (FGG) maps to chromosome 17 in both cattle and sheep.

    Science.gov (United States)

    Johnson, S E; Barendse, W; Hetzel, D J

    1993-01-01

    The gamma fibrinogen gene (FGG) was localised in both cattle and sheep using in situ hybridisation. The probe employed was a 1-kb bovine cDNA fragment. Based on observations of QFQ-banded chromosome preparations, this locus is on bovine chromosome 17q12-->q13 and on the homologous sheep chromosome 17. This localisation is, to our knowledge, the first assignment to chromosome 17 in either the bovine or ovine genome. In addition to localising FGG to this chromosome, the assignment provisionally maps the previously unassigned syntenic group U23, containing (besides FGG) the genes for mitochondrial aldehyde dehydrogenase 2 (ALDH2), interleukin 2 (IL2), immunoglobulin lambda (IGL), and beta fibrinogen (FGB), to chromosome 17 in cattle and probably to the same chromosome in sheep.

  3. Distal humeral epiphyseal separation.

    Science.gov (United States)

    Moucha, Calin S; Mason, Dan E

    2003-10-01

    Distal humeral epiphyseal separation is an uncommon injury that is often misdiagnosed upon initial presentation. To make a timely, correct diagnosis, the treating physician must have a thorough understanding of basic anatomical relationships and an awareness of the existence of this injury. This is a case of a child who sustained a separation of the distal humeral epiphysis, as well as multiple other bony injuries, secondary to child abuse.

  4. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

    Science.gov (United States)

    Darabi, Hatef; Beesley, Jonathan; Droit, Arnaud; Kar, Siddhartha; Nord, Silje; Moradi Marjaneh, Mahdi; Soucy, Penny; Michailidou, Kyriaki; Ghoussaini, Maya; Fues Wahl, Hanna; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Alonso, M. Rosario; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W.; Benitez, Javier; Bogdanova, Natalia V.; Bojesen, Stig E.; Brauch, Hiltrud; Brenner, Hermann; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Choi, Ji-Yeob; Conroy, Don M.; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Easton, Douglas F.; Fasching, Peter A.; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Galle, Eva; García-Closas, Montserrat; Giles, Graham G.; Goldberg, Mark S.; González-Neira, Anna; Guénel, Pascal; Haiman, Christopher A.; Hallberg, Emily; Hamann, Ute; Hartman, Mikael; Hollestelle, Antoinette; Hopper, John L.; Ito, Hidemi; Jakubowska, Anna; Johnson, Nichola; Kang, Daehee; Khan, Sofia; Kosma, Veli-Matti; Kriege, Mieke; Kristensen, Vessela; Lambrechts, Diether; Le Marchand, Loic; Lee, Soo Chin; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Matsuo, Keitaro; Mayes, Rebecca; McKay, James; Meindl, Alfons; Milne, Roger L.; Muir, Kenneth; Neuhausen, Susan L.; Nevanlinna, Heli; Olswold, Curtis; Orr, Nick; Peterlongo, Paolo; Pita, Guillermo; Pylkäs, Katri; Rudolph, Anja; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Southey, Melissa C.; Stram, Daniel O.; Surowy, Harald; Swerdlow, Anthony; Teo, Soo H.; Tessier, Daniel C.; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Vachon, Celine M.; Vincent, Daniel; Winqvist, Robert; Wu, Anna H.; Wu, Pei-Ei; Yip, Cheng Har; Zheng, Wei; Pharoah, Paul D. P.; Hall, Per; Edwards, Stacey L.; Simard, Jacques; French, Juliet D.; Chenevix-Trench, Georgia; Dunning, Alison M.

    2016-01-01

    Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90–0.94; P = 8.96 × 10−15)) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10−09, r2 = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10−11, r2 = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus. PMID:27600471

  5. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Fogh, Isabella; Ratti, Antonia; Gellera, Cinzia; Lin, Kuang; Tiloca, Cinzia; Moskvina, Valentina; Corrado, Lucia; Sorarù, Gianni; Cereda, Cristina; Corti, Stefania; Gentilini, Davide; Calini, Daniela; Castellotti, Barbara; Mazzini, Letizia; Querin, Giorgia; Gagliardi, Stella; Del Bo, Roberto; Conforti, Francesca L; Siciliano, Gabriele; Inghilleri, Maurizio; Saccà, Francesco; Bongioanni, Paolo; Penco, Silvana; Corbo, Massimo; Sorbi, Sandro; Filosto, Massimiliano; Ferlini, Alessandra; Di Blasio, Anna M; Signorini, Stefano; Shatunov, Aleksey; Jones, Ashley; Shaw, Pamela J; Morrison, Karen E; Farmer, Anne E; Van Damme, Philip; Robberecht, Wim; Chiò, Adriano; Traynor, Bryan J; Sendtner, Michael; Melki, Judith; Meininger, Vincent; Hardiman, Orla; Andersen, Peter M; Leigh, Nigel P; Glass, Jonathan D; Overste, Daniel; Diekstra, Frank P; Veldink, Jan H; van Es, Michael A; Shaw, Christopher E; Weale, Michael E; Lewis, Cathryn M; Williams, Julie; Brown, Robert H; Landers, John E; Ticozzi, Nicola; Ceroni, Mauro; Pegoraro, Elena; Comi, Giacomo P; D'Alfonso, Sandra; van den Berg, Leonard H; Taroni, Franco; Al-Chalabi, Ammar; Powell, John; Silani, Vincenzo

    2014-04-15

    Identification of mutations at familial loci for amyotrophic lateral sclerosis (ALS) has provided novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease. However, genome-wide association studies (GWAS) of the more common (∼90%) sporadic form have been less successful with the exception of the replicated locus at 9p21.2. To identify new loci associated with disease susceptibility, we have established the largest association study in ALS to date and undertaken a GWAS meta-analytical study combining 3959 newly genotyped Italian individuals (1982 cases and 1977 controls) collected by SLAGEN (Italian Consortium for the Genetics of ALS) together with samples from Netherlands, USA, UK, Sweden, Belgium, France, Ireland and Italy collected by ALSGEN (the International Consortium on Amyotrophic Lateral Sclerosis Genetics). We analysed a total of 13 225 individuals, 6100 cases and 7125 controls for almost 7 million single-nucleotide polymorphisms (SNPs). We identified a novel locus with genome-wide significance at 17q11.2 (rs34517613 with P = 1.11 × 10(-8); OR 0.82) that was validated when combined with genotype data from a replication cohort (P = 8.62 × 10(-9); OR 0.833) of 4656 individuals. Furthermore, we confirmed the previously reported association at 9p21.2 (rs3849943 with P = 7.69 × 10(-9); OR 1.16). Finally, we estimated the contribution of common variation to heritability of sporadic ALS as ∼12% using a linear mixed model accounting for all SNPs. Our results provide an insight into the genetic structure of sporadic ALS, confirming that common variation contributes to risk and that sufficiently powered studies can identify novel susceptibility loci.

  6. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

    Science.gov (United States)

    Darabi, Hatef; Beesley, Jonathan; Droit, Arnaud; Kar, Siddhartha; Nord, Silje; Moradi Marjaneh, Mahdi; Soucy, Penny; Michailidou, Kyriaki; Ghoussaini, Maya; Fues Wahl, Hanna; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Alonso, M Rosario; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Benitez, Javier; Bogdanova, Natalia V; Bojesen, Stig E; Brauch, Hiltrud; Brenner, Hermann; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Choi, Ji-Yeob; Conroy, Don M; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Easton, Douglas F; Fasching, Peter A; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Galle, Eva; García-Closas, Montserrat; Giles, Graham G; Goldberg, Mark S; González-Neira, Anna; Guénel, Pascal; Haiman, Christopher A; Hallberg, Emily; Hamann, Ute; Hartman, Mikael; Hollestelle, Antoinette; Hopper, John L; Ito, Hidemi; Jakubowska, Anna; Johnson, Nichola; Kang, Daehee; Khan, Sofia; Kosma, Veli-Matti; Kriege, Mieke; Kristensen, Vessela; Lambrechts, Diether; Le Marchand, Loic; Lee, Soo Chin; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Matsuo, Keitaro; Mayes, Rebecca; McKay, James; Meindl, Alfons; Milne, Roger L; Muir, Kenneth; Neuhausen, Susan L; Nevanlinna, Heli; Olswold, Curtis; Orr, Nick; Peterlongo, Paolo; Pita, Guillermo; Pylkäs, Katri; Rudolph, Anja; Sangrajrang, Suleeporn; Sawyer, Elinor J; Schmidt, Marjanka K; Schmutzler, Rita K; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Southey, Melissa C; Stram, Daniel O; Surowy, Harald; Swerdlow, Anthony; Teo, Soo H; Tessier, Daniel C; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Vachon, Celine M; Vincent, Daniel; Winqvist, Robert; Wu, Anna H; Wu, Pei-Ei; Yip, Cheng Har; Zheng, Wei; Pharoah, Paul D P; Hall, Per; Edwards, Stacey L; Simard, Jacques; French, Juliet D; Chenevix-Trench, Georgia; Dunning, Alison M

    2016-09-07

    Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus.

  7. Localization of the cellular retinoic acid binding protein (CRABP) gene relative to the acute promyelocytic leukemia-associated breakpoint on human chromosome 15

    NARCIS (Netherlands)

    A.H.M. Geurts van Kessel (Ad); H. de Leeuw (H.); E.J. Dekker (E.); J.M. Rijks (Jolianne); N. Spurr (N.); A.M. Ledbetter (Andrew M.); E. Kootwijk (E.); M.J. Vaessen (Marie-Josée)

    1991-01-01

    textabstractA human genomic fragment comprising the cellular retinoic acid binding protein (CRABP) gene was isolated. By using a panel of somatic cell hybrids, this gene could be assigned to human chromosome 15. Subsequently, a possible involvement of the CRABP gene in translocation (15;17) (q22;q11

  8. Marker chromosomes.

    Science.gov (United States)

    Rao, Kiran Prabhaker; Belogolovkin, Victoria

    2013-04-01

    Marker chromosomes are a morphologically heterogeneous group of structurally abnormal chromosomes that pose a significant challenge in prenatal diagnosis. Phenotypes associated with marker chromosomes are highly variable and range from normal to severely abnormal. Clinical outcomes are very difficult to predict when marker chromosomes are detected prenatally. In this review, we outline the classification, etiology, cytogenetic characterization, and clinical consequences of marker chromosomes, as well as practical approaches to prenatal diagnosis and genetic counseling.

  9. Abnormalities of chromosome 17 in myelodysplastic syndromes: Incidence and biological significance

    Directory of Open Access Journals (Sweden)

    Marisavljević Dragomir

    2004-01-01

    Full Text Available Cytogenetic analysis has proven to be a mandatory part of the diagnosis of myelodysplastic syndromes (MDS as well as a major indicator for predicting clinical course and outcome. Aside from the 5q-syndrome, no specific clinico-cytogenetic entity has been reported. To determine the incidence and clinical significance of acquired abnormalities of chromosome 17 in adult primary MDS, we reviewed the cytogenetic features of 271 patients detected at our institution during a 10-year period. Clonal cytogenetic abnormalities were identified in 109 cases. Among them, abnormalities of chromosome 17 were identified in 13 patients (11.9%. Five patients had „single" defects, while in eight patients abnormalities of chromosome 17 were associated with other chromosomal rearrangements („complex" defects. After chromosomes 5,7,8 and 1, abnormalities of chromosome 17 were the most frequent chromosomal rearrangements in our patients with MDS. Following „single" defects of chromosome 17 were identified: del(17(pl2 in two cases, and i(17(q10, del(17(q21;q23 and del(17(ql2;q22 in one case each. Two patients with del(17p, one with RAEB-t and the other one with CMML, had an aggressive course of the disease with accelerated leukemic transformation and short survival. Patient with i(17q had RARS subtype and died soon after diagnosis, while other two cases with interstitial deletions of the long arm of chromosome 17 had RAEB subtype and stable, no progressive course of the disease. Among „complex" karyotypes with abnormalities of chromosome 17 we identified der(l 7 in four, monosomy 17 in two, and del(17p and i(17q in one case each. Most of these patients transformed to acute leukemia and had very short survival. The results of this study suggest that abnormalities of chromosome 17 are frequent finding in MDS. Loss of genetic material in 17p, both in „single" and „complex" defects, seems to be closely related to poor prognosis of MDS patients.

  10. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

    DEFF Research Database (Denmark)

    Steffens, M.; Leu, C.; Ruppert, A. K.

    2012-01-01

    myoclonic epilepsy (JME). Joint Stage-1 and 2 analyses revealed genome-wide significant associations for GGEs at 2p16.1 (rs13026414, P-meta 2.5 10(9), OR[T] 0.81) and 17q21.32 (rs72823592, P-meta 9.3 10(9), OR[A] 0.77). The search for syndrome-related susceptibility alleles identified significant...... with the largest number of known epilepsy-related mutations. The associated regions harbor high-ranking candidate genes: CHRM3 at 1q43, VRK2 at 2p16.1, ZEB2 at 2q22.3, SCN1A at 2q24.3 and PNPO at 17q21.32. Further replication efforts are necessary to elucidate whether these positional candidate genes contribute...

  11. Laparoscopic Distal Pancreatectomy

    Science.gov (United States)

    Melotti, Gianluigi; Butturini, Giovanni; Piccoli, Micaela; Casetti, Luca; Bassi, Claudio; Mullineris, Barbara; Lazzaretti, Maria Grazia; Pederzoli, Paolo

    2007-01-01

    Objective: To describe the clinical characteristics, indications, technical procedures, and outcome of a consecutive series of laparoscopic distal pancreatic resections performed by the same surgical team. Summary Background Data: Laparoscopic distal pancreatic resection has increasingly been described as a feasible and safe procedure, although accompanied by a high rate of conversion and morbidity. Methods: A consecutive series of patients affected by solid and cystic tumors were selected prospectively to undergo laparoscopic distal pancreatectomy performed by the same surgical team. Clinical characteristics as well as diagnostic preoperative assessment and intra- and postoperative data were prospectively recorded. A follow-up of at least 3 months was available for all patients. Results: Fifty-eight patients underwent laparoscopic resection between May 1999 and November 2005. All procedures were successfully performed laparoscopically, and no patient required intraoperative blood transfusion. Splenic vessel preservation was possible in 84.4% of spleen-preserving procedures. There were no mortalities. The overall median hospital stay was 9 days, while it was 10.5 days for patients with postoperative pancreatic fistulae (27.5% of all cases). Follow-up was available for all patients. Conclusions: Our experience in 58 consecutive patients was characterized by the lack of conversions and by acceptable rates of postoperative pancreatic fistulae and morbidity. Laparoscopy proved especially beneficial in patients with postoperative complications as they had a relatively short hospital stay. Solid and cystic tumors of the distal pancreas represent a good indication for laparoscopic resection whenever possible. PMID:17592294

  12. Distal radioulnar joint injuries

    Directory of Open Access Journals (Sweden)

    Binu P Thomas

    2012-01-01

    Full Text Available Distal radioulnar joint is a trochoid joint relatively new in evolution. Along with proximal radioulnar joint , forearm bones and interosseous membrane, it allows pronosupination and load transmission across the wrist. Injuries around distal radioulnar joint are not uncommon, and are usually associated with distal radius fractures,fractures of the ulnar styloid and with the eponymous Galeazzi or Essex_Lopresti fractures. The injury can be purely involving the soft tissue especially the triangular fibrocartilage or the radioulnar ligaments.The patients usually present with ulnar sided wrist pain, features of instability, or restriction of rotation. Difficulty in carrying loads in the hand is a major constraint for these patients. Thorough clinical examination to localize point of tenderness and appropriate provocative tests help in diagnosis. Radiology and MRI are extremely useful, while arthroscopy is the gold standard for evaluation. The treatment protocols are continuously evolving and range from conservative, arthroscopic to open surgical methods. Isolated dislocation are uncommon. Basal fractures of the ulnar styloid tend to make the joint unstable and may require operative intervention. Chronic instability requires reconstruction of the stabilizing ligaments to avoid onset of arthritis. Prosthetic replacement in arthritis is gaining acceptance in the management of arthritis.

  13. Distal Xq duplication and functional Xq disomy

    Directory of Open Access Journals (Sweden)

    Schluth-Bolard Caroline

    2009-02-01

    Full Text Available Abstract Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq. Clinical manifestations widely vary depending on the gender of the patient and on the gene content of the duplicated segment. Prevalence of Xq duplications remains unknown. About 40 cases of Xq28 functional disomy due to cytogenetically visible rearrangements, and about 50 cases of cryptic duplications encompassing the MECP2 gene have been reported. The most frequently reported distal duplications involve the Xq28 segment and yield a recognisable phenotype including distinctive facial features (premature closure of the fontanels or ridged metopic suture, broad face with full cheeks, epicanthal folds, large ears, small and open mouth, ear anomalies, pointed nose, abnormal palate and facial hypotonia, major axial hypotonia, severe developmental delay, severe feeding difficulties, abnormal genitalia and proneness to infections. Xq duplications may be caused either by an intrachromosomal duplication or an unbalanced X/Y or X/autosome translocation. In XY males, structural X disomy always results in functional disomy. In females, failure of X chromosome dosage compensation could result from a variety of mechanisms, including an unfavourable pattern of inactivation, a breakpoint separating an X segment from the X-inactivation centre in cis, or a small ring chromosome. The MECP2 gene in Xq28 is the most important dosage-sensitive gene responsible for the abnormal phenotype in duplications of distal Xq. Diagnosis is based on clinical features and is confirmed by CGH array techniques. Differential diagnoses include Prader-Willi syndrome and Alpha thalassaemia-mental retardation, X linked (ATR-X. The recurrence risk is significant if a structural rearrangement is present in one of the parent, the most frequent situation being that of an intrachromosomal duplication inherited from the mother. Prenatal diagnosis is performed by

  14. Further evidence for a non-random chromosomal abnormality in acute promyelocytic leukemia

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J.D.; Golomb, H.M.; Vardiman, J.; Fukahara, S.; Dougherty, C.; Potter, D.

    1977-01-01

    We have previously reported on two patients with acute promyelocytic leukemia (APL) who had what appeared to be a deletion of chromosome No. 17. We now describe a third patient with APL. All three patients had a structural rearrangement involving No. 15 and No. 17. Our current interpretation of the chromosomal abnormality is that it is a reciprocal translocation, t (15; 17) (q22; q21). Evidence that this is a consistent rearrangement associated with APL comes not only from our three patients, but also from two other published cases of APL, studied with banding, who also had an identical abnormality.

  15. New Y chromosomes and early stages of sex chromosome differentiation: sex determination in Megaselia

    Indian Academy of Sciences (India)

    Walther Traut

    2010-09-01

    The phorid fly Megaselia scalaris is a laboratory model for the turnover and early differentiation of sex chromosomes. Isolates from the field have an XY sex-determining mechanism with chromosome pair 2 acting as X and Y chromosomes. The sex chromosomes are homomorphic but display early signs of sex chromosome differentiation: a low level of molecular differences between X and Y. The male-determining function $(M)$, maps to the distal part of the Y chromosome’s short arm. In laboratory cultures, new Y chromosomes with no signs of a molecular differentiation arise at a low rate, probably by transposition of to these chromosomes. Downstream of the primary signal, the homologue of the Drosophila doublesex (dsx) is part of the sex-determining pathway while Sex-lethal (Sxl), though structurally conserved, is not.

  16. Microdissection and chromosome painting of X and B chromosomes in Locusta migratoria.

    Science.gov (United States)

    Teruel, María; Cabrero, Josefa; Montiel, Eugenia E; Acosta, Manuel J; Sánchez, Antonio; Camacho, Juan Pedro M

    2009-01-01

    Acquisition of knowledge of the nature and DNA content of B chromosomes has been triggered by a collection of molecular techniques, one of which, microdissection, has provided interesting results in a number of B chromosome systems. Here we provide the first data on the molecular composition of B chromosomes in Locusta migratoria, after microdissection of the B and X chromosomes, DNA amplification by one (B) or two (X) different methods, and chromosome painting. The results showed that B chromosomes share at least two types of repetitive DNA sequences with the A chromosomes, suggesting that Bs in this species most likely arose intraspecifically. One of these repetitive DNAs is located on the heterochromatic distal half of the B chromosome and in the pericentromeric regions of about half of the A chromosomes, including the X. The other type of repetitive DNA is located interspersedly over the non-centromeric euchromatic regions of all A chromosomes and in an interstitial part of the proximal euchromatic half of the B chromosome. Chromosome painting, however, did not provide results sufficiently reliable to determine, in this species, which A chromosome gave rise to the B; this might be done by detailed analysis of the microdissected DNA sequences.

  17. Modeling Chromosomes

    Science.gov (United States)

    Robertson, Carol

    2016-01-01

    Learning about chromosomes is standard fare in biology classrooms today. However, students may find it difficult to understand the relationships among the "genome", "chromosomes", "genes", a "gene locus", and "alleles". In the simple activity described in this article, which follows the 5E approach…

  18. Distal arthrogryposis syndrome

    Directory of Open Access Journals (Sweden)

    Kulkarni K

    2008-01-01

    Full Text Available A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome.

  19. Alterations at chromosome 17 loci in peripheral nerve sheath tumors

    Energy Technology Data Exchange (ETDEWEB)

    Lothe, R.A.; Slettan, A.; Saeter, G. [Norwegian Radium Hospital, Oslo (Norway)] [and others

    1995-01-01

    Little is known about the molecular genetic changes in malignant peripheral nerve sheath tumors (MPNST). Inactivation of the TP53 gene in l7p has been reported in a few tumors. The MPNST is one of the manifestations of neurofibromatosis 1 (NF1), suggesting that the NF1 gene in 17q might be important. We present a study of 15 neurofibromas and MPNST from nine individuals. Seven patients had NF1 and six of these developed MPNST. Genetic alterations at nine polymorphic loci on chromosome 17 were examined. Allelic imbalance was detected only in the malignant tumors from NF1 patients (4/6). Complete loss of heterozygosity of 17q loci was found in three of these tumors, all including loci within the NF1 gene. Two of the malignant tumors also showed deletions on 17p. No mutations were detected within exon 5-8 of the TP53 in any of the MPNST, and none of them were TP53 protein-positive using immunostaining with mono- and polyclonal antibodies against TP53. The numbers of chromosome 17 present in each tumor were evaluated by use of fluorescence in situ hybridization (FISH) on interphase nuclei with a centromere-specific probe. A deviation from the disomic status of chromosome 17 was observed in two of the MPNST from NF1 patients. These results support the hypothesis of inactivation of both NF1 gene alleles during development of MPNST in patients with NF1. In contrast to other reports, we did not find evidence for a homozygous mutated condition of the TP53 gene in the same tumors. Finally, FISH analysis was in accordance with the DNA analysis in the deduction of the numbers of chromosome 17 in these tumors. 29 refs., 3 figs., 2 tabs.

  20. Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1

    Energy Technology Data Exchange (ETDEWEB)

    Sudbrak, R.; Deufel, T. [Universitaet Muenster (Germany); Procaccio, V.; Lunardi, J.; Klausnitzer, M.; Mueller, C.R.; Hartung, E.J.; Curran, J.L.; Stewart, A.D. [and others

    1995-03-01

    Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease for which MH susceptibility (MHS) is transmitted as an autosomal dominant trait. A potentially life-threatening MH crisis is triggered by exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants. The first malignant hyperthermia susceptibility locus (MHS1) was identified on human chromosome 19{sub q}13.1, and evidence has been obtained that defects in the gene for the calcium-release channel of skeletal muscle sarcoplasmic reticulum (ryanodine receptor; RYR1) can cause some forms of MH. However, MH has been shown to be genetically heterogeneous, and additional loci on chromosomes 17q and 7q have been suggested. In a collaborative search of the human genome with polymorphic microsatellite markers, we now found linkage of the MHS phenotype, as assessed by the European in vitro contracture test protocol, to markers defining a 1-cM interval on chromosome 3q13.1. A maximum multipoint lod score of 3.22 was obtained in a single German pedigree with classical MH, and none of the other pedigrees investigated in this study showed linkage to this region. Linkage to both MHS1/RYR1 and putative loci on chromosome 17q and 7q were excluded. This study supports the view that considerable genetic heterogeneity exists in MH. 47 refs., 2 figs., 3 tabs.

  1. Spectrum of complex chromosomal aberrations in a myelodysplastic syndrome and a brief review

    Directory of Open Access Journals (Sweden)

    Bani Bandana Ganguly

    2016-01-01

    Full Text Available Myelodysplastic syndrome (MDS is a heterogeneous premalignant condition characterized by cytopenia, ineffective hematopoiesis, dysplastic marrow, and risk of progression to acute myeloid leukemia. Cytogenetic abnormalities, including del(3q/5q/7q/11q/12p/20q, monosomy 5/7, trisomy 8/19, i(17q, and -Y, are the indicators of diagnosis and risk stratification. The present case with bicytopenia detected with highly complex chromosome rearrangements with variability in numerical and structural combinations. Chromosome analysis was carried out following unstimulated marrow culture and G-banding. In addition to known MDS-aberrations, der(9p, der(12 dic(12;?19, +15, −18, and ring and marker chromosomes were recorded having, at least, nine abnormal chromosomes/cell. To our knowledge, this is the first case with all MDS-aberrations in one single individual. The case has been discussed in relevance to current MDS research. In the present case, i(17q/-17, der(12p, del(5q26, del(7q36, and del(20q11 indicate possible alterations in TP53, ETV6, IDH2, EZH2, and SRSF2 genes, which are responsible for pathomechanism, genetic instability, clonal evolution, and advancement of disease condition.

  2. Distal corporoplasty for distal cylinders extrusion after penile prosthesis implantation.

    Science.gov (United States)

    Carrino, Maurizio; Chiancone, Francesco; Battaglia, Gaetano; Pucci, Luigi; Fedelini, Paolo

    2017-02-03

    Distal extrusion of cylinders is a potential complication of the penile prosthesis implantation. Several methods have been proposed for repairing a distal penile erosion. We present our preliminary experience in "Distal corporoplasty" technique. We enrolled 18 consecutive patients whose underwent a distal corporoplasty with simultaneous reimplantation of an "AMS 700 inflatable penile prosthesis (LGX)" from January 2013 to November 2015 at our hospital. All procedures were performed by a single surgical team. Intraoperative and postoperative complications have been classified and reported according to Satava6 and Clavien-Dindo (CD) system.7 Mean values with standard deviations (±SD) were computed and reported for all items. Mean age of the patients was 53.61 (±11.90) years. Mean body max index (BMI) was 24.22 (±2.51). Mean operative time was 85.2 (±13.1) minutes. Blood losses were minimal. No intraoperative complications are reported according to Satava classification. Four out of 18 patients (22.22%) experienced postoperative complications according to CD system. All patients had sexual intercourse for the first time postsurgery after a mean of 59.11 ± 2.08 days. Mean follow-up was 22.11 (±9.95). Distal extrusion of cylinders is a potential complication of the penile prosthesis implantation. Distal corporoplasty was first described by Mulcahy. He reported a series of 14 patients with a follow-up of about 2 years with optimal functional outcomes. Moreover, distal corporoplasty resulted in shorter operative time, better function, less pain, and fewer recurrences than Gortex windsock repair.10 In our experience, distal corporoplasty is a simple and safe procedure in the treatment of distal cylinders extrusion when the prosthetic material is not exposed to the exterior.

  3. Synthetic chromosomes.

    Science.gov (United States)

    Schindler, Daniel; Waldminghaus, Torsten

    2015-11-01

    What a living organism looks like and how it works and what are its components-all this is encoded on DNA, the genetic blueprint. Consequently, the way to change an organism is to change its genetic information. Since the first pieces of recombinant DNA have been used to transform cells in the 1970s, this approach has been enormously extended. Bigger and bigger parts of the genetic information have been exchanged or added over the years. Now we are at a point where the construction of entire chromosomes becomes a reachable goal and first examples appear. This development leads to fundamental new questions, for example, about what is possible and desirable to build or what construction rules one needs to follow when building synthetic chromosomes. Here we review the recent progress in the field, discuss current challenges and speculate on the appearance of future synthetic chromosomes.

  4. Genome wide association and linkage analyses identified three loci -- 4q25, 17q23.2 and 10q11.21 -- associated with variation in leukocyte telomere length: The Long Life Family Study

    Directory of Open Access Journals (Sweden)

    Joseph H Lee

    2014-01-01

    Full Text Available Leukocyte telomere length is believed to measure cellular aging in humans, and short leukocyte telomere length is associated with increased risks of late onset diseases, including cardiovascular disease, dementia, etc. Many studies have shown that leukocyte telomere length is a heritable trait, and several candidate genes have been identified, including TERT, TERC, OBFC1, and CTC1. Unlike most studies that have focused on genetic causes of chronic diseases such as heart disease and diabetes in relation to leukocyte telomere length, the present study examined the genome to identify variants that may contribute to variation in leukocyte telomere length among families with exceptional longevity. From the genome wide association analysis in 4,289 LLFS participants, we identified a novel intergenic SNP rs7680468 located near PAPSS1 and DKK2 on 4q25 (p=4.7E-8. From our linkage analysis, we identified two additional loci with HLOD scores exceeding three, including 4.77 for 17q23.2 and 4.36 for 10q11.21. These two loci harbor a number of novel candidate genes with SNPs, and our gene-wise association analysis identified multiple genes, including DCAF7, POLG2, CEP95, and SMURF2 at 17q23.2; and RASGEF1A, HNRNPF, ANF487, CSTF2T, and PRKG1 at 10q11.21. Among these genes, multiple SNPs were associated with leukocyte telomere length, but the strongest association was observed with one contiguous haplotype in CEP95 and SMURF2. We also show that three previously reported genes – TERC, MYNN, and OBFC1 – were significantly associated with leukocyte telomere length at pempirical smaller than 0.05.

  5. Distal DVT: worth diagnosing? Yes.

    Science.gov (United States)

    Schellong, S M

    2007-07-01

    Much of the argument for or against diagnosis of distal deep vain thrombosis (DVT) depends on the extra effort that has to be spent on it. This review presents the data on ultrasound of paired calf veins and calf muscle veins (distal ultrasound) in terms of protocols, feasibility, reliability and expected findings. In summary, provided there is adequate and anatomically sound training of sonographers, distal ultrasound is a valid, 4-minute procedure, which can easily be added to the examination of proximal veins. The second part of the review refers to the pathophysiology of ascending DVT, which is the most common type. Adequate patient care in terms of benefit, harm and cost includes a single non-invasive examination followed by risk adopted treatment allocation. This concept ideally should be valid for any type of DVT. The data extending this concept to distal DVT can only be derived from studies that look closely at this entity (i.e. in fact diagnose distal DVT). Even before these data are available, diagnosing distal DVT at least doubles the number of symptomatic patients in which signs and symptoms can be ascribed to a definitive diagnosis, which in itself is a benefit for patient care.

  6. Reverse Distal Transverse Palmar Arch in Distal Digital Replantation.

    Science.gov (United States)

    Wei, Ching-Yueh; Orozco, Oscar; Vinagre, Gustavo; Shafarenko, Mark

    2017-07-22

    Refinements in microsurgery have made distal finger replantation an established technique with high success rates and good functional and aesthetic outcomes. However, it still represents a technically demanding procedure due to the small vessel caliber and frequent lack of vessel length, requiring the use of interpositional venous grafts in some instances. We describe a new technique for anastomosis in fingertip replantation, whereby the need for venous grafts is eliminated. Applying the reverse distal transverse palmar arch technique, 11 cases of distal digital replantation were performed between January 2011 and July 2016. The described procedure was used for arterial anastomosis in 10 cases and arteriovenous shunting for venous drainage in 1 case. A retrospective case review was conducted. The technical description and clinical outcome evaluations are presented. Ten of the 11 replanted digits survived, corresponding to an overall success rate of 91%. One replant failed due to venous insufficiency. Blood transfusions were not required for any of the patients. Follow-up (range, 1.5-5 months) revealed near-normal range of motion and good aesthetic results. All of the replanted digits developed protective sensation. The average length of hospital admission was 5 days. All patients were satisfied with the results and were able to return to their previous work. The use of the reverse distal transverse palmar arch is a novel and reliable technique in distal digital replantation when an increase in vessel length is required, allowing for a tension-free arterial repair without the need for vein grafts.

  7. Chromosome Analysis

    Science.gov (United States)

    1998-01-01

    Perceptive Scientific Instruments, Inc., provides the foundation for the Powergene line of chromosome analysis and molecular genetic instrumentation. This product employs image processing technology from NASA's Jet Propulsion Laboratory and image enhancement techniques from Johnson Space Center. Originally developed to send pictures back to earth from space probes, digital imaging techniques have been developed and refined for use in a variety of medical applications, including diagnosis of disease.

  8. Paternal isodisomy of chromosome 6 in association with a maternal supernumerary marker chromosome (6)

    Energy Technology Data Exchange (ETDEWEB)

    James, R.S.; Crolla, J.A.; Sitch, F.L. [Salisbury District Hospital, Wiltshire (United Kingdom)] [and others

    1994-09-01

    Uniparental disomy may arise by a number of different mechanisms of aneuploidy correction. A population that has been identified as being at increased risk of aneuploidy are those individuals bearing supernumerary marker chromosomes (SMCs). There have been a number of cases reported of trisomy 21 in association with bi-satellited marker chromosomes have described two individuals with small inv dup (15) markers. One had paternal isodisomy of chromosome 15 and Angelman syndrome. The other had maternal heterodisomy (15) and Prader-Willi syndrome. At the Wessex Regional Genetics Laboratory we have conducted a search for uniparental disomy of the normal homologues of the chromosomes from which SMCs originated. Our study population consists of 39 probands with SMCs originating from a number of different autosomes, including 17 with SMCs of chromosome 15 origin. Using PCR amplification of microsatellite repeat sequences located distal to the regions included in the SMCs we have determined the parental origin of the two normal homologues in each case. We have identified paternal isodisomy of chromosome 6 in a female child with a supernumerary marker ring chromosome 6 in approximately 70% of peripheral blood lymphocytes. The marker was found to be of maternal origin. This is the second case of paternal isodisomy of chromosome 6 to be reported, and the first in association with a SMC resulting in a partial trisomy for a portion of the short arm of chromosome 6. In spite of this, the patient appears to be functioning appropriately for her age.

  9. QTL Information Table: 17 [Q-TARO

    Lifescience Database Archive (English)

    Full Text Available Rf5 Physiological trait Sterility fertility-restoring SSR B)Fine BC1F1 Yuetai Nov-9..., and Zhu, Y.G. (2004). Inheritance and molecular mapping of two fertility-restoring loci for Honglian gamet

  10. Molecular abnormalities in pediatric embryonal brain tumors--analysis of loss of heterozygosity on chromosomes 1, 5, 9, 10, 11, 16, 17 and 22.

    Science.gov (United States)

    Zakrzewska, M; Rieske, P; Debiec-Rychter, M; Zakrzewski, K; Polis, L; Fiks, T; Liberski, P P

    2004-01-01

    Embryonal tumors, the most common group of malignant brain tumors in childhood, are heterogeneous and have been associated with a large number of genetic abnormalities. The aim of this study was to comprehensively analyze loss of heterozygosity (LOH) on regions harboring suppressor genes (PTCH2, PTCH1, APC, PTEN, DMBT1, SUFU, AXIN1, hSNF5/INI1) and to study chromosomal regions in which deletions have been described most frequently (1p, 1q, 11p, 16p, 17p). Twenty-nine children (17 male and 12 female), aged from 1 year 13 years were included in this study. There were 24 medulloblastomas (MB) and 5 supratentorial primitive neuroectodermal tumors (sPNET). Tissue samples from 29 primary and 11 recurrent tumors were analyzed according to the LOH standard procedures, which were extended to include fluorescence in situ hybridization for detection of isochromosome 17q (i(17q)) and direct sequencing ofTP53 exon 4. LOH on 17p was found in 15 out of 29 tumors. FISH analysis identified the presence of i(17q) in 16 tumors. Comparison of LOH analysis and the FISH data indicated that alterations of 17p were related to be the introduction of an i(17q) formation. LOH on 10q and 9q was observed in 4 and 2 cases, respectively, and was associated with alterations of chromosome 17. These results indicated a connection between alterations of PTCH/SHH genes and abnormalities of chromosome 17. A deleted region on 22q, covering the hSNF5/INI1 locus, was observed in 3 tumors. Progression of the molecular changes occurred in 1 case of recurrent medulloblastoma. LOH on 10q and 17p was found in both primary and recurrent tumor, while losses on 11p, 16p, and 16q occurred only in the recurrent tumor. No evidence of alteration in TP53 exon 4 was identified.

  11. [Distal humerus fractures in children].

    Science.gov (United States)

    Schneidmueller, D; Boettger, M; Laurer, H; Gutsfeld, P; Bühren, V

    2013-11-01

    Fractures of the distal humerus belong to the most common injuries of the upper arm in childhood. Most frequently occurring is the supracondylar fracture of the distal humerus. In these cases and in the second most common epicondylar fractures, the metaphysis is affected and these fractures are therefore extra-articular. They have to be distinguished from articular fractures regarding therapy and prognosis. The growth potential of the distal epiphysis is very limited as is the possibility of spontaneous correction so that major dislocations should not be left uncorrected. Unstable and especially dislocated articular fractures must be anatomically reconstructed employing various osteosynthetic techniques, mostly combined with immobilization. Insufficient reconstruction, growth disturbance and non-union can result in axial deformities, such as cubitus valgus and varus, restriction of motion, pain and nerve palsy.

  12. Traumatic Distal Ulnar Artery Thrombosis

    Directory of Open Access Journals (Sweden)

    Ahmet A. Karaarslan

    2014-01-01

    Full Text Available This paper is about a posttraumatic distal ulnar artery thrombosis case that has occurred after a single blunt trauma. The ulnar artery thrombosis because of chronic trauma is a frequent condition (hypothenar hammer syndrome but an ulnar artery thrombosis because of a single direct blunt trauma is rare. Our patient who has been affected by a single blunt trauma to his hand and developed ulnar artery thrombosis has been treated by resection of the thrombosed ulnar artery segment. This report shows that a single blunt trauma can cause distal ulnar artery thrombosis in the hand and it can be treated merely by thrombosed segment resection in suitable cases.

  13. Convergence and divergence of tumor-suppressor and proto-oncogenes in chimpanzee from human chromosome 17

    Energy Technology Data Exchange (ETDEWEB)

    Verma, R.S.; Ramesh, K.H. [Long Island College Hospital, Brooklyn, NY (United States)

    1994-09-01

    Due to the emergence of molecular technology, the phylogenetic evolution of the human genome via apes has become a saltatory even. In the present investigation, cosmid probes for P53, Charcot-Marie-Tooth [CMTIA], HER-2/NEU and myeloperoxidase [MPO] were used. Probes mapping to these genetic loci are well-defined on human chromosome 17 [HSA 17]. We localized these genes on chimpanzee [Pan troglodyte] chromosomes by FISH technique employing two different cell lines. Our results indicate that chimpanzee chromosome 19 [PTR 19] differs from HSA 17 by a pericentric inversion. The P53 gene assigned to HSA 17p13.1 is localized on PTR 19p15 and the MPO sequence of HSA 17q21.3-23 hybridized to PTR 19q23. Perplexing enough, HER-2/NEU assigned to HSA 17q11.2 localized to PTR 19p12. Obviously, there is convergence of P53 and MPO regions and distinctive divergence of HER-2/NEU and CMT1A regions of human and chimpanzee. This investigation has demonstrated the pronounced genetic shuffling which occurred during the origin of HSA 17. Molecular markers should serve as evolutionary punctuations in defining the precise sequence of genetic events that led to the evolution of other chromosomes whose genomic synteny, although similar, have surprisingly evolved through different mechanisms.

  14. Diversity of breakpoints of variant Philadelphia chromosomes in chronic myeloid leukemia in Brazilian patients

    Directory of Open Access Journals (Sweden)

    Maria de Lourdes Lopes Ferrari Chauffaille

    2015-02-01

    Full Text Available Background: Chronic myeloid leukemia is a myeloproliferative disorder characterized by the Philadelphia chromosome or t(9;22(q34.1;q11.2, resulting in the break-point cluster regionAbelson tyrosine kinase fusion gene, which encodes a constitutively active tyrosine kinase protein. The Philadelphia chromosome is detected by karyotyping in around 90% of chronic myeloid leukemia patients, but 5-10% may have variant types. Variant Philadelphia chromosomes are characterized by the involvement of another chromosome in addition to chromosome 9 or 22. It can be a simple type of variant when one other chromosome is involved, or complex, in which two or more chromosomes take part in the translocation. Few studies have reported the incidence of variant Philadelphia chromosomes or the breakpoints involved among Brazilian chronic myeloid leukemia patients. Objective: The aim of this report is to describe the diversity of the variant Philadelphia chromosomes found and highlight some interesting breakpoint candidates for further studies. Methods: the Cytogenetics Section Database was searched for all cases with diagnoses of chronic myeloid leukemia during a 12-year period and all the variant Philadelphia chromosomes were listed. Results: Fifty (5.17% cases out of 1071 Philadelphia-positive chronic myeloid leukemia were variants. The most frequently involved chromosome was 17, followed by chromosomes: 1, 20, 6, 11, 2, 10, 12 and 15. Conclusion: Among all the breakpoints seen in this survey, six had previously been described: 11p15, 14q32, 15q11.2, 16p13.1, 17p13 and 17q21. The fact that some regions get more fre- quently involved in such rare rearrangements calls attention to possible predisposition that should be further studied. Nevertheless, the pathological implication of these variants remains unclear.

  15. PLZF-RAR[alpha] fusion proteins generated from the variant t(11; 17)(q23; q21) translocation in acute promyelocytic leukemia inhibit ligand-dependent transactivation of wild-type retinoic acid receptors

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Zhu; Chen, Sai-Juan; Wang, Zhen-Yi (Shanghai Second Medical Univ. (China)); Guidez, F.; Rousselot, P.; Agadir, A.; Degos, L.; Chomienne, C. (Laboratoire de Biologie Cellulaire Hematopoietique, Paris (France)); Zelent, A. (Institute for Cancer Research, London (United Kingdom)); Waxman, S. (Mount Sinai Medical Center, New York, NY (United States))

    1994-02-01

    Recently, the authors described a recurrent variant translocation, t(11;17)(q23;q21), in acute promyelocytic leukemia (APL) which juxtaposes PLZF, a gene encoding a zinc finger protein, to RARA, encoding retinoic acid receptor [alpha] (RAR[alpha]). They have now cloned cDNAs encoding PLZF-RAR[alpha] chimeric proteins and studied their transactivating activities. In transient-expression assays, both the PLZF(A)-RAR[alpha] and PLZF(B)-RAR[alpha] fusion proteins like the PML-RAR[alpha] protein resulting from the well-known t(15;17) translocation in APL, antagonized endogenous and transfected wild-type RAR[alpha] in the presence of retinoic acid. Cotransfection assays showed that a significant repression of RAR[alpha] transactivation activity was obtained even with a very low PLZF-RAR[alpha]-expressing plasmid concentration. A [open quotes]dominant negative[close quotes] effect was observed with vectors expressing RAR[alpha] and retinoid X receptor [alpha] (RXR[alpha]). These abnormal transactivation properties observed in retinoic acid-sensitive myeloid cells strongly implicate the PLZF-RAR[alpha] fusion proteins in the molecular pathogenesis of APL.

  16. A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population.

    Science.gov (United States)

    Miura, Kiyonori; Mishima, Hiroyuki; Yasunami, Michio; Kaneuchi, Masanori; Kitajima, Michio; Abe, Shuhei; Higashijima, Ai; Fuchi, Naoki; Miura, Shoko; Yoshiura, Koh-Ichiro; Masuzaki, Hideaki

    2016-09-01

    In this study, associations between invasive cervical cancer and four cervical cancer susceptibility loci (rs13117307 at 4q12, rs8067378 at 17q12, and rs4282438 and rs9277952 at 6p21.32) in the Han Chinese population were investigated in a Japanese population. Human leukocyte antigen (HLA)-DPB1 alleles were also investigated for their association with cervical cancer risk in the Japanese population. After receiving written informed consent, 214 unrelated Japanese women with invasive cervical cancer and 288 cancer-free Japanese women were recruited, and DNA samples were obtained (study protocol approved by Institutional Review Board of Nagasaki University). Of the four single-nucleotide polymorphisms, rs8067378 showed a significant association with invasive cervical cancer (P=0.0071). Under a recessive model, the minor allele G of rs8067378 contributed to the risk of invasive cervical cancer (odds ratio=2.92, 95% confidence interval=1.40-6.36; P=0.0021). No association was detected between HLA-DPB1 alleles and cervical cancer risk in the Japanese population. In conclusion, we show for the first time, to the best of our knowledge, that an association between increased risk of invasive cervical cancer and rs8067378 in the Han Chinese population is replicated in a Japanese population. In addition, Japanese women with the GG genotype of rs8067378 are a candidate high-risk group for invasive cervical carcinoma.

  17. Distal esophageal spasm: an update.

    Science.gov (United States)

    Achem, Sami R; Gerson, Lauren B

    2013-09-01

    Distal esophageal spasm (DES) is an esophageal motility disorder that presents clinically with chest pain and/or dysphagia and is defined manometrically as simultaneous contractions in the distal (smooth muscle) esophagus in ≥20% of wet swallows (and amplitude contraction of ≥30 mmHg) alternating with normal peristalsis. With the introduction of high resolution esophageal pressure topography (EPT) in 2000, the definition of DES was modified. The Chicago classification proposed that the defining criteria for DES using EPT should be the presence of at least two premature contractions (distal latencylong acting), calcium-channel blockers, anticholinergic agents, 5-phosphodiesterase inhibitors, visceral analgesics (tricyclic agents or SSRI), and esophageal dilation. Acid suppression therapy is frequently used, but clinical outcome trials to support this approach are not available. Injection of botulinum toxin in the distal esophagus may be effective, but further data regarding the development of post-injection gastroesophageal reflux need to be assessed. Heller myotomy combined with fundoplication remains an alternative for the rare refractory patient. Preliminary studies suggest that the newly developed endoscopic technique of per oral endoscopic myotomy (POEM) may also be an alternative treatment modality.

  18. Meiotic chromosomes and stages of sex chromosome evolution in fish: zebrafish, platyfish and guppy.

    Science.gov (United States)

    Traut, W; Winking, H

    2001-01-01

    We describe SC complements and results from comparative genomic hybridization (CGH) on mitotic and meiotic chromosomes of the zebrafish Danio rerio, the platyfish Xiphophorus maculatus and the guppy Poecilia reticulata. The three fish species represent basic steps of sex chromosome differentiation: (1) the zebrafish with an all-autosome karyotype; (2) the platyfish with genetically defined sex chromosomes but no differentiation between X and Y visible in the SC or with CGH in meiotic and mitotic chromosomes; (3) the guppy with genetically and cytogenetically differentiated sex chromosomes. The acrocentric Y chromosomes of the guppy consists of a proximal homologous and a distal differential segment. The proximal segment pairs in early pachytene with the respective X chromosome segment. The differential segment is unpaired in early pachytene but synapses later in an 'adjustment' or 'equalization' process. The segment includes a postulated sex determining region and a conspicuous variable heterochromatic region whose structure depends on the particular Y chromosome line. CGH differentiates a large block of predominantly male-specific repetitive DNA and a block of common repetitive DNA in that region.

  19. Amplified loci on chromosomes 8 and 17 predict early relapse in ER-positive breast cancers.

    Directory of Open Access Journals (Sweden)

    Erhan Bilal

    Full Text Available Adjuvant hormonal therapy is administered to all early stage ER+ breast cancers, and has led to significantly improved survival. Unfortunately, a subset of ER+ breast cancers suffer early relapse despite hormonal therapy. To identify molecular markers associated with early relapse in ER+ breast cancer, an outlier analysis method was applied to a published gene expression dataset of 268 ER+ early-stage breast cancers treated with tamoxifen alone. Increased expression of sets of genes that clustered in chromosomal locations consistent with the presence of amplicons at 8q24.3, 8p11.2, 17q12 (HER2 locus and 17q21.33-q25.1 were each found to be independent markers for early disease recurrence. Distant metastasis free survival (DMFS after 10 years for cases with any amplicon (DMFS = 56.1%, 95% CI = 48.3-63.9% was significantly lower (P = 0.0016 than cases without any of the amplicons (DMFS = 87%, 95% CI = 76.3% -97.7%. The association between presence of chromosomal amplifications in these regions and poor outcome in ER+ breast cancers was independent of histologic grade and was confirmed in independent clinical datasets. A separate validation using a FISH-based assay to detect the amplicons at 8q24.3, 8p11.2, and 17q21.33-q25.1 in a set of 36 early stage ER+/HER2- breast cancers treated with tamoxifen suggests that the presence of these amplicons are indeed predictive of early recurrence. We conclude that these amplicons may serve as prognostic markers of early relapse in ER+ breast cancer, and may identify novel therapeutic targets for poor prognosis ER+ breast cancers.

  20. Milestone Completion Report WBS 1.3.5.05 ECP/VTK-m FY17Q2 [MS-17/01] Better Dynamic Types Design SDA05-1

    Energy Technology Data Exchange (ETDEWEB)

    Moreland, Kenneth D.

    2017-04-01

    The FY17Q2 milestone of the ECP/VTK-m project, which is the first milestone, includes the completion of design documents for the introduction of virtual methods into the VTK-m framework. Specifically, the ability from within the code of a device (e.g. GPU or Xeon Phi) to jump to a virtual method specified at run time. This change will enable us to drastically reduce the compile time and the executable code size for the VTK-m library. Our first design introduced the idea of adding virtual functions to classes that are used during algorithm execution. (Virtual methods were previously banned from the so called execution environment.) The design was straightforward. VTK-m already has the generic concepts of an “array handle” that provides a uniform interface to memory of different structures and an “array portal” that provides generic access to said memory. These array handles and portals use C++ templating to adjust them to different memory structures. This composition provides a powerful ability to adapt to data sources, but requires knowing static types. The proposed design creates a template specialization of an array portal that decorates another array handle while hiding its type. In this way we can wrap any type of static array handle and then feed it to a single compiled instance of a function. The second design focused on the mechanics of implementing virtual methods on parallel devices with a focus on CUDA. Our initial experiments on CUDA showed a very large overhead for using virtual C++ classes with virtual methods, the standard approach. Instead, we are using an alternate method provided by C that uses function pointers. With the completion of this milestone, we are able to move to the implementation of objects with virtual (like) methods. The upshot will be much faster compile times and much smaller library/executable sizes.

  1. Distal clavicle fractures in children☆

    Science.gov (United States)

    Labronici, Pedro José; da Silva, Ricardo Rodrigues; Franco, Marcos Vinícius Viana; Labronici, Gustavo José; Pires, Robinson Esteves Santos; Franco, José Sergio

    2015-01-01

    Objective To analyze fractures of the distal clavicle region in pediatric patients. Methods Ten patients between the ages of five to eleven years (mean of 7.3 years) were observed. Nine patients were treated conservatively and one surgically. All the fractures were classified using the Nenopoulos classification system. Results All the fractures consolidated without complications. Conservative treatment was used for nine patients, of whom three were in group IIIB, three IIb, two IIa and one IV. The only patient who was treated surgically was a female patient of eleven years of age with a group IV fracture. Conclusion The treatment indication for distal fractures of the clavicle in children should be based on the patient's age and the displacement of the fragments. PMID:26962489

  2. Distal clavicle fractures in children

    Directory of Open Access Journals (Sweden)

    Pedro José Labronici

    2016-02-01

    Full Text Available ABSTRACT OBJECTIVE: To analyze fractures of the distal clavicle region in pediatric patients. METHODS: Ten patients between the ages of five to eleven years (mean of 7.3 years were observed. Nine patients were treated conservatively and one surgically. All the fractures were classified using the Nenopoulos classification system. RESULTS: All the fractures consolidated without complications. Conservative treatment was used for nine patients, of whom three were in group IIIB, three IIb, two IIa and one IV. The only patient who was treated surgically was a female patient of eleven years of age with a group IV fracture. CONCLUSION: The treatment indication for distal fractures of the clavicle in children should be based on the patient's age and the displacement of the fragments.

  3. Chondroblastoma of the distal phalanx.

    Science.gov (United States)

    Gregory, James R; Lehman, Thomas P; White, Jeremy R; Fung, Kar-Ming

    2014-05-01

    Chondroblastoma is a rare, benign primary bone tumor that usually occurs at the epiphysis of long bones. The authors present an example of the diagnosis and successful treatment of this neoplasm in an exceedingly rare location in the distal phalanx. Clinical and radiographic outcomes after 68 months of follow-up are presented. A 15-year-old, right hand-dominant, boy developed painful swelling of the right ring finger. Radiographs revealed a radiolucent lesion of the distal phalanx with expansile remodeling of the bone. An excisional biopsy was performed with curettage and bone grafting of the lesion. The diagnosis of chondroblastoma was made based on pathologic evaluation of the biopsy specimen. Sixty-six months after surgical treatment, the patient was free of recurrence and metastatic disease with excellent clinical and functional outcomes. To the authors' knowledge, this represents only the second reported case of chondroblastoma of the distal phalanx. The diagnosis of chondroblastoma in this rare location was made by pathologic review of the resection specimen. It is imperative to confirm the diagnosis of any resected bone specimen even when the concern for an aggressive or malignant lesion is low. A tumor presenting in an unusual location may require a change in treatment or surveillance.

  4. Time course study of the chromosome-type breakage-fusion-bridge cycle in maize.

    OpenAIRE

    Zheng, Y Z; Roseman, R R; Carlson, W. R.

    1999-01-01

    The B chromosome of maize has been used in a study of dicentric chromosomes. TB-9Sb is a translocation between the B and chromosome 9. The B-9 of TB-9Sb carries 60% of the short arm of 9. For construction of dicentrics, a modified B-9 chromosome was used, B-9-Dp9. It consists of the B-9 chromosome plus a duplicated 9S region attached to the distal end. In meiosis, fold-back pairing and crossing over in the duplicated region gives a chromatid-type dicentric B-9 that subsequently initiates a ch...

  5. CHROMOSOME ABNORMALITIES IN INFERTILITY

    Directory of Open Access Journals (Sweden)

    Mateja Smogavec

    2009-08-01

    Conclusions Chromosomal analysis is an important method in diagnostic procedures of infertility, because chromosomal abnormalities could play the important role in etiology of infertility and are more frequently detected in this group of patients compared to general population. In the infertile couples balanced chromosomal abnormalities are the main cause of spontaneous abortions. Sex chromosome aneuploidies are highly correlated to infertility of females and males.

  6. Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing

    DEFF Research Database (Denmark)

    Skovgaard, Ole; Bak, Mads; Løbner-Olesen, Anders;

    2011-01-01

    a combination of WGS and genome copy number analysis, for the identification of mutations that suppress the growth deficiency imposed by excessive initiations from the Escherichia coli origin of replication, oriC. The E. coli chromosome, like the majority of bacterial chromosomes, is circular, and DNA...... replication is initiated by assembling two replication complexes at the origin, oriC. These complexes then replicate the chromosome bidirectionally toward the terminus, ter. In a population of growing cells, this results in a copy number gradient, so that origin-proximal sequences are more frequent than...... origin-distal sequences. Major rearrangements in the chromosome are, therefore, readily identified by changes in copy number, i.e., certain sequences become over- or under-represented. Of the eight mutations analyzed in detail here, six were found to affect a single gene only, one was a large chromosomal...

  7. Evidence for different origin of sex chromosomes in snakes, birds, and mammals and step-wise differentiation of snake sex chromosomes.

    Science.gov (United States)

    Matsubara, Kazumi; Tarui, Hiroshi; Toriba, Michihisa; Yamada, Kazuhiko; Nishida-Umehara, Chizuko; Agata, Kiyokazu; Matsuda, Yoichi

    2006-11-28

    All snake species exhibit genetic sex determination with the ZZ/ZW type of sex chromosomes. To investigate the origin and evolution of snake sex chromosomes, we constructed, by FISH, a cytogenetic map of the Japanese four-striped rat snake (Elaphe quadrivirgata) with 109 cDNA clones. Eleven of the 109 clones were localized to the Z chromosome. All human and chicken homologues of the snake Z-linked genes were located on autosomes, suggesting that the sex chromosomes of snakes, mammals, and birds were all derived from different autosomal pairs of the common ancestor. We mapped the 11 Z-linked genes of E. quadrivirgata to chromosomes of two other species, the Burmese python (Python molurus bivittatus) and the habu (Trimeresurus flavoviridis), to investigate the process of W chromosome differentiation. All and 3 of the 11 clones were localized to both the Z and W chromosomes in P. molurus and E. quadrivirgata, respectively, whereas no cDNA clones were mapped to the W chromosome in T. flavoviridis. Comparative mapping revealed that the sex chromosomes are only slightly differentiated in P. molurus, whereas they are fully differentiated in T. flavoviridis, and E. quadrivirgata is at a transitional stage of sex-chromosome differentiation. The differentiation of sex chromosomes was probably initiated from the distal region on the short arm of the protosex chromosome of the common ancestor, and then deletion and heterochromatization progressed on the sex-specific chromosome from the phylogenetically primitive boids to the more advanced viperids.

  8. GENETIC ALTERRATIONS OF MICROSATELLITE MARKERS AT CHROMOSOME 17 IN NON-SMALL CELL LUNG CANCER

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective: To analyse the microsatellite instability (MI) and loss of heterozygosity (LOH) in non-small cell lung cancer (NSCLC). Methods: MI and LOH at chromosome 17 were checked in 35 cases of NSCLC tumor-normal paired tissues using four microsatellite markers TP53 (17p13.1), THRA1 (17q11.2-12), D17S579 (17q12-21) and D17S855 (17q21) by PCR based analysis. Mutations of P53 exons 5-8 were also tested using PCR-single strand conformation polymorphism (PCR-SSCP) and PCR-denaturing gradient gel electrophoresis (PCR-DGGE) analysis. Results: 22 of 35 tumors (62.8%) displayed MI or LOH. 14 tumors (40.0%) exhibited MI, 11 tumors (31.4%) exhibited LOH, while 3 tumors (8.6%) exhibited MI and LOH concurrently. 23 tumors (65.7%) exhibited P53 gene mutations. The frequency of MI or LOH was obviously higher in the early-stage (stages I and II, 78.9%) than in the advanced-stage (stage III, 43.8%). However, the frequency of MI or LOH had no difference either between high-grade (75.0%) and low-grade (52.6%) differentiated NSCLC or between the tumors with P53 mutations (59.1%) and those without P53 mutations (69.2%). No relationship was observed between the presence of MI or LOH and the histologic subtype of NSCLC. Conclusion: The results suggest that MI and LOH at chromosome 17 may play a alterations on chromosome 17 in tumors of non-small cell lung cancer (NSCLC). In addition, studies reported contradictory results concerning the incidence of these alterations and the relationship between these genetic alterations and the clinical behavior of NSCLC. The aim of this study was to investigate the incidence of MI and LOH at chromosome 17 in tumors of patients with NSCLC and its association with clinical and histologic features of NSCLC.

  9. Undetected sex chromosome aneuploidy by chromosomal microarray.

    Science.gov (United States)

    Markus-Bustani, Keren; Yaron, Yuval; Goldstein, Myriam; Orr-Urtreger, Avi; Ben-Shachar, Shay

    2012-11-01

    We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aberrations. Such a possibility should be taken into consideration in similar cases where CMA is used in a clinical setting.

  10. Caulobacter chromosome segregation is an ordered multistep process.

    Science.gov (United States)

    Shebelut, Conrad W; Guberman, Jonathan M; van Teeffelen, Sven; Yakhnina, Anastasiya A; Gitai, Zemer

    2010-08-10

    Despite its fundamental nature, bacterial chromosome segregation remains poorly understood. Viewing segregation as a single process caused multiple proposed mechanisms to appear in conflict and failed to explain how asymmetrically dividing bacteria break symmetry to move only one of their chromosomes. Here, we demonstrate that the ParA ATPase extends from one cell pole and pulls the chromosome by retracting upon association with the ParB DNA-binding protein. Surprisingly, ParA disruption has a specific effect on chromosome segregation that only perturbs the latter stages of this process. Using quantitative high-resolution imaging, we demonstrate that this specificity results from the multistep nature of chromosome translocation. We propose that Caulobacter chromosome segregation follows an ordered pathway of events with distinct functions and mechanisms. Initiation releases polar tethering of the origin of replication, distinction spatially differentiates the two chromosomes, and commitment irreversibly translocates the distal centromeric locus. Thus, much as eukaryotic mitosis involves a sequence of distinct subprocesses, Caulobacter cells also segregate their chromosomes through an orchestrated series of steps. We discuss how the multistep view of bacterial chromosome segregation can help to explain and reconcile outstanding puzzles and frame future investigation.

  11. Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

    Science.gov (United States)

    Vetro, Annalisa; Dehghani, Mohammad Reza; Kraoua, Lilia; Giorda, Roberto; Beri, Silvana; Cardarelli, Laura; Merico, Maurizio; Manolakos, Emmanouil; Parada-Bustamante, Alexis; Castro, Andrea; Radi, Orietta; Camerino, Giovanna; Brusco, Alfredo; Sabaghian, Marjan; Sofocleous, Crystalena; Forzano, Francesca; Palumbo, Pietro; Palumbo, Orazio; Calvano, Savino; Zelante, Leopoldo; Grammatico, Paola; Giglio, Sabrina; Basly, Mohamed; Chaabouni, Myriam; Carella, Massimo; Russo, Gianni; Bonaglia, Maria Clara; Zuffardi, Orsetta

    2015-08-01

    Duplications in the ~2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46,XX disorders of sex development (DSD) without any effects on the XY background. A balanced translocation with its breakpoint falling within the same region has also been described in one XX DSD subject. We analyzed, by conventional and molecular cytogenetics, 19 novel SRY-negative unrelated 46,XX subjects both familial and sporadic, with isolated DSD. One of them had a de novo reciprocal t(11;17) translocation. Two cases carried partially overlapping 17q24.3 duplications ~500 kb upstream of SOX9, both inherited from their normal fathers. Breakpoints cloning showed that both duplications were in tandem, whereas the 17q in the reciprocal translocation was broken at ~800 kb upstream of SOX9, which is not only close to a previously described 46,XX DSD translocation, but also to translocations without any effects on the gonadal development. A further XX male, ascertained because of intellectual disability, carried a de novo cryptic duplication at Xq27.1, involving SOX3. CNVs involving SOX3 or its flanking regions have been reported in four XX DSD subjects. Collectively in our cohort of 19 novel cases of SRY-negative 46,XX DSD, the duplications upstream of SOX9 account for ~10.5% of the cases, and are responsible for the disease phenotype, even when inherited from a normal father. Translocations interrupting this region may also affect the gonadal development, possibly depending on the chromatin context of the recipient chromosome. SOX3 duplications may substitute SRY in some XX subjects.

  12. A case of segmental paternal isodisomy of chromosome 14.

    Science.gov (United States)

    Coveler, Karen J; Yang, Sam P; Sutton, ReidV; Milstein, Jay M; Wu, Yuan-Qing; Bois, Knox-Du; Beischel, Linda S; Johnson, John P; Shaffer, Lisa G

    2002-03-01

    Uniparental disomy of chromosome 14 (UPD 14) results in one of two distinct abnormal phenotypes, depending upon the parent of origin. This discordance may result from the reciprocal over-expression and/or under-expression of one or more imprinted genes. We report a case of segmental paternal isodisomy for chromosome 14 with features similar to those reported in other paternal disomy 14 cases. Microsatellite marker analysis revealed an apparent somatic recombination event in 14q12 leading to proximal biparental inheritance, but segmental paternal uniparental isodisomy distal to this site. Analysis of monochromosomal somatic cell hybrids containing either the paternally inherited or the maternally inherited chromosome 14 revealed no deletion of the maternally inherited chromosome 14 and demonstrated the presence of paternal sequences from D14S121 to the telomere on both chromosomes 14. Thus, the patient has paternal isodisomy for 14q12-14qter. Because the patient shows most of the features associated with paternal disomy 14, this supports the presence of the imprinted domain(s) distal to 14q12 and suggests that the proximal region of chromosome 14 does not contain imprinted genes that contribute significantly to the paternal UPD 14 phenotype.

  13. Chromosomal mapping of the structural gene coding for the mouse cell adhesion molecule uvomorulin

    Energy Technology Data Exchange (ETDEWEB)

    Eistetter, H.R.; Adolph, S.; Ringwald, M.; Simon-Chazottes, D.; Schuh, R.; Guenet, J.L.; Kemler, R. (Max-Planck-Gesellschaft, Tuebingen (West Germany))

    1988-05-01

    The gene coding for the mouse cell adhesion molecule uvomorulin has been mapped to chromosome 8. Uvomorulin cDNA clone F5H3 identified restriction fragment length polymorphisms in Southern blots of genomic DNA from mouse species Mus musculus domesticus and Mus spretus. By analyzing the segregation pattern of the gene in 75 offspring from an interspecific backcross a single genetic locus, Um, was defined on chromosome 8. Recombination frequency between Um and the co-segregating loci serum esterase 1 (Es-1) and tyrosine aminotransferase (Tat) places Um about 14 centimorgan (cM) distal to Es-1, and 5 cM proximal to Tat. In situ hybridization of uvomorulin ({sup 3}H)cDNA to mouse metaphase chromosomes located the Um locus close to the distal end of chromosome 8 (bands C3-E1). Since uvomorulin is evolutionarily highly conserved, its chromosomal assignment adds an important marker to the mouse genetic map.

  14. Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7

    Directory of Open Access Journals (Sweden)

    Fang Jye-Siung

    2011-02-01

    Full Text Available Abstract Aim Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay. Methods Phenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to investigate her brain structure and function. Subsequently, chromosomal abnormalities were examined by karyotyping and fluorescent in situ hybridization was performed to investigate size of fragments lost at the two distal ends of the ring chromosome 7. In addition, multicolour banding was applied to rule out structural rearrangement occurs in between the ring chromosome 7. Results The proband was born with mosaic supernumerary ring chromosome 7, without a normal karyotype detected in the peripheral blood lymphocytes. The distal arm of chromosome 7p (at least 255 kb from the telomere was part of an extra ring chromosome 7. In addition, the distal arm of 7q, at least 8 kb from the telomere, was missing. There was no other chromosomal rearrangement detected by multicolour banding. Interpretation This is the 19th reported case of complete ring chromosome 7 mosaicism and the first survived case with mosaic supernumerary ring 7 without a normal karyotype detected in the peripheral lymphocytes.

  15. Increased frequency of dicentric chromosomes in therapy-related MDS and AML compared to de novo disease is significantly related to previous treatment with alkylating agents and suggests a specific susceptibility to chromosome breakage at the centromere.

    Science.gov (United States)

    Andersen, M K; Pedersen-Bjergaard, J

    2000-01-01

    Dicentric chromosomes are observed in many malignant diseases including myelodysplasia (MDS) and acute myeloid leukemia (AML) and have often been observed in a subset of these diseases, namely therapy-related MDS (t-MDS) and AML (t-AML). Using fluorescence in situ hybridization (FISH) with centromere-specific probes, we investigated the frequency and type of dicentric chromosomes in 180 consecutive patients with t-MDS and t-AML and in 231 consecutive patients with de novo MDS and AML, whose karyotypes had been studied previously by conventional G-banding. Twenty-seven out of 180 patients with t-MDS or t-AML presented dicentric chromosomes compared to only seven out of 231 patients with de novo disease (P = 0.00003). A dic(1q;7p) was observed in 10 cases, a dic(5p;17q) was observed in six cases, whereas various isodicentric chromosomes were observed in six cases. Excluding these six cases with isodicentrics, all 25 patients with dicentric chromosomes had involvement of at least one of the chromosome arms 1q, 5p, or 7p resulting in monosomy for 5q or 7q, and/or trisomy for 1q. Patients with dicentric chromosomes presented significantly more often as t-MDS compared to patients without dicentrics (P = 0.046), and the presence of a dicentric chromosome was significantly related to previous therapy with alkylating agents (P = 0.026). Thus, only one out of 27 patients with a dicentric chromosome had not previously received an alkylating agent. A specific susceptibility to breakage at the centromere after exposure to alkylating agents is suggested and may explain the frequent loss of whole chromosomes, in particular chromosomes 5 and 7 in t-MDS and t-AML, if the breaks are not followed by rejoining. Leukemia (2000) 14, 105-111.

  16. Distal realignment (tibial tuberosity transfer).

    Science.gov (United States)

    Feller, Julian Ashley

    2012-09-01

    Although tibial tuberosity (TT) transfer has for many years been the basis of many protocols for the management of patellar instability, the role of pure medial transfer in particular appears to be declining. In contrast, the greater recognition of the importance of patella alta as a predisposing factor to recurrent patellar dislocation has resulted in a resurgence in the popularity of distal TT transfer. When TT transfer is performed, the direction and amount of transfer is based on the patellar height and the lateralization of the TT relative to the trochlear groove. Patellar height is best assessed on a lateral radiograph with the knee in flexion using a ratio that uses the articular surface of the patella in relation to the height above the tibia. Assessment of lateralization of the TT relative to the trochlear groove can be made using either computed tomography or magnetic resonance imaging scans.

  17. Chromosome Disorder Outreach

    Science.gov (United States)

    ... BLOG Join Us Donate You are not alone. Chromosome Disorder Outreach, Inc. is a non-profit organization, ... Support For all those diagnosed with any rare chromosome disorder. Since 1992, CDO has supported the parents ...

  18. Chromosomal damage induced by human adenovirus type 12 requires expression of the E1B 55-kilodalton viral protein.

    Science.gov (United States)

    Schramayr, S; Caporossi, D; Mak, I; Jelinek, T; Bacchetti, S

    1990-01-01

    Infection of human embryonic kidney cells with adenovirus type 12 results in the induction of damage at specific (17q21-22, 1p36, 1q21, and 1q42-43) and random sites in the cellular chromosomes. A previous study by Durnam et al. (D. M. Durnam, P. P. Smith, J. C. Menninger, and J. K. McDougall, Cancer Cells 4:349-354, 1986) indicated that the expression of viral early region 1 (E1) is sufficient for the induction of damage at band 17q21-22. In the present report we used an adenovirus type 12-adenovirus type 5 recombinant with E1A hybrid sequences as well as viruses with mutations in the adenovirus type 12 E1B genes to map adenovirus type 12 E1 functions involved in the induction of genetic damage. Our results show that the expression of the E1A proteins is not sufficient for this effect. On the other hand, mutations within the E1B 55-kilodalton protein but not the E1B 19-kilodalton protein affect the ability of the virus to induce both specific and random chromosomal damage. Images PMID:2325204

  19. Chromosomal aberrations in human hepatocellular carcinomas associated with hepatitis C virus infection detected by comparative genomic hybridization

    Science.gov (United States)

    Sakakura, C; Hagiwara, A; Taniguchi, H; Yamaguchi, T; Yamagishi, H; Takahashi, T; Koyama, K; Nakamura, Y; Abe, T; Inazawa, J

    1999-01-01

    Thirty-five hepatocellular carcinomas (HCCs) associated with hepatitis C virus (HCV) were analysed by comparative genomic hybridization (CGH), to screen for changes in copy-number of DNA sequences. Chromosomal losses were noted in 1p34–36 (37%), 4q12–21 (48%), 5q13–21 (35%), 6q13–16 (23%), 8p21–23 (28%), 13q (20%), 16q (33%) and 17p13 (37%). Gains were noted in 1q (46%), 6p (20%), 8q21–24 (31%) and 17q (43%). High level gains indicative of gene amplifications were found in 7q31 (3%), 11q13 (3%), 14q12 (6%) and 17q12 (3%); amplification at 14q12 may be characteristic for HCCs. No significant difference in chromosomal aberrations was noted between carcinomas associated with HCV-infection in our study and those reported earlier in HCCs infected with hepatitis B virus (HBV), indicating that both HBV- and HCV-related carcinomas may progress through a similar cascade of molecular events. © 1999 Cancer Research Campaign PMID:10471057

  20. Chromosome painting in plants.

    NARCIS (Netherlands)

    Schubert, I.; Fransz, P.F.; Fuchs, J.; Jong, de J.H.

    2001-01-01

    The current 'state-of-art' as to chromosome painting in plants is reviewed. We define different situations described as painting so far: i) Genomic in situ hybridisation (GISH) with total genomic DNA to distinguish alien chromosomes on the basis of divergent dispersed repeats, ii) 'Chromosomal in si

  1. ZEBRAFISH CHROMOSOME-BANDING

    NARCIS (Netherlands)

    PIJNACKER, LP; FERWERDA, MA

    1995-01-01

    Banding techniques were carried out on metaphase chromosomes of zebrafish (Danio rerio) embryos. The karyotypes with the longest chromosomes consist of 12 metacentrics, 26 submetacentrics, and 12 subtelocentrics (2n = 50). All centromeres are C-band positive. Eight chromosomes have a pericentric C-b

  2. Chromosome painting in plants.

    NARCIS (Netherlands)

    Schubert, I.; Fransz, P.F.; Fuchs, J.; Jong, de J.H.

    2001-01-01

    The current 'state-of-art' as to chromosome painting in plants is reviewed. We define different situations described as painting so far: i) Genomic in situ hybridisation (GISH) with total genomic DNA to distinguish alien chromosomes on the basis of divergent dispersed repeats, ii) 'Chromosomal in

  3. Interlocking nailing in fractures of distal tibia

    Directory of Open Access Journals (Sweden)

    Akshay Phadke

    2016-04-01

    Conclusions: Intramedullary nailing is an effective alternative for the treatment of distal metaphyseal tibial fractures. A proper patient selection, adjuvant fixation of fibula and use of at least two distal interlocking screws is suggested for better outcome. [Int J Res Med Sci 2016; 4(4.000: 1132-1135

  4. Giant cell tumour of distal ulna.

    Science.gov (United States)

    Archik, Shreedhar; Tripathi, Sanjay Kumar; Nanda, Saurav Narayan; Choudhari, Ashlesh

    2017-01-01

    Giant cell tumor (GCT) of distal end epiphysis ulna is a rare presentation, and only few cases are reported in the scientific literature. We report a case of GCT of distal end epiphysis ulna treated at our Tertiary Care Hospital, Mumbai.

  5. Robotic distal pancreatectomy: a valid option?

    Science.gov (United States)

    Jung, M K; Buchs, N C; Azagury, D E; Hagen, M E; Morel, P

    2013-10-01

    Although reported in the literature, conventional laparoscopic approach for distal pancreatectomy is still lacking widespread acceptance. This might be due to two-dimensional vision and decreased range of motion to reach and safely dissect this highly vascularized retroperitoneal organ by laparoscopy. However, interest in minimally invasive access is growing ever since and the robotic system could certainly help overcome limitations of the laparoscopic approach in the challenging domain of pancreatic resection, notably in distal pancreatectomy. Robotic distal pancreatectomy with and without spleen preservation has been reported with encouraging outcomes for benign and borderline malignant disease. As a result of upgraded endowristed manipulation and three-dimensional visualization, improved outcome might be expected with the launch of the robotic system in the procedure of distal pancreatectomy. Our aim was thus to extensively review the current literature of robot-assisted surgery for distal pancreatectomy and to evaluate advantages and possible limitations of the robotic approach.

  6. Bloom syndrome and maternal uniparental disomy for chromosome 15

    Energy Technology Data Exchange (ETDEWEB)

    Woodage, T.; Prasad, M.; Trent, R.J.; Smith, A. (Children' s Hospital, Camperdown, New South Wales (New Zealand)); Dixon, J.W.; Romain, D.R.; Columbano-Green, L.M.; Selby, R.E. (Wellington Hospital (New Zealand)); Graham, D. (Waikato Hospital, Hamilton (New Zealand)); Rogan, P.K. (Pennsylvania State Univ., Hershey, PA (United States)) (and others)

    1994-07-01

    Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syndrome (PWS). Molecular analysis showed maternal uniparental disomy for chromosome 15. Meiotic recombination between the two disomic chromosomes 15 has resulted in heterodisomy for proximal 15q and isodisomy for distal 15q. In this individual BS is probably due to homozygosity for a gene that is telomeric to D15S95 (15q25), rather than to genetic imprinting, the mechanism responsible for the development of PWS. This report represents the first application of disomy analysis to the regional localization of a disease gene. This strategy promises to be useful in the genetic mapping of other uncommon autosomal recessive conditions. 37 refs., 3 figs., 2 tabs.

  7. Mapping strategies: Chromosome 16 workshop

    Energy Technology Data Exchange (ETDEWEB)

    1989-01-01

    The following topics from a workshop on chromosome 16 are briefly discussed: genetic map of chromosome 16; chromosome breakpoint map of chromosome 16; integrated physical/genetic map of chromosome 16; pulsed field map of the 16p13.2--p13.3 region (3 sheets); and a report of the HGM10 chromosome 16 committee.

  8. Engineering of plant chromosomes.

    Science.gov (United States)

    Mette, Michael Florian; Houben, Andreas

    2015-02-01

    Engineered minimal chromosomes with sufficient mitotic and meiotic stability have an enormous potential as vectors for stacking multiple genes required for complex traits in plant biotechnology. Proof of principle for essential steps in chromosome engineering such as truncation of chromosomes by T-DNA-mediated telomere seeding and de novo formation of centromeres by cenH3 fusion protein tethering has been recently obtained. In order to generate robust protocols for application in plant biotechnology, these steps need to be combined and supplemented with additional methods such as site-specific recombination for the directed transfer of multiple genes of interest on the minichromosomes. At the same time, the development of these methods allows new insight into basic aspects of plant chromosome functions such as how centromeres assure proper distribution of chromosomes to daughter cells or how telomeres serve to cap the chromosome ends to prevent shortening of ends over DNA replication cycles and chromosome end fusion.

  9. Treatment of distal clavicle fracture with distal radius volar locking compression plate

    Institute of Scientific and Technical Information of China (English)

    YU Chao; SUN Yue-hua; ZHAO Chang-qing; SHI Ding-wei; WANG You

    2009-01-01

    Objective: To observe the early clinical outcomes of the internal fixation with distal radius volar locking compression plate (LCP) in treatment of distal clavicle fracture.Methods: Six patients with unilateral distal clavicle fractures, identified as type Ⅱ according to Neer classification system, including 4 males and 2 females, were treated with open reduction and internal fixation using a distal radius volar LCP. Bone union was evaluated by routine X-ray radiography, and shoulder joint function were assessed by Constant score system.Results: All fractures achieved bone union at 6 to 8 weeks postoperatively, and Constant scores ranged from 95 to 100 at the postoperative 10 to 12 weeks.Conclusion: Fixation of distal clavicle fracture with distal radius volar LCP demonstrates excellent effects of bone union with rarely early complications, thus providing a new technique to treat distal clavicle fracture.

  10. Chromosomal instability in meningiomas.

    Science.gov (United States)

    van Tilborg, Angela A G; Al Allak, Bushra; Velthuizen, Sandra C J M; de Vries, Annie; Kros, Johan M; Avezaat, Cees J J; de Klein, Annelies; Beverloo, H Berna; Zwarthoff, Ellen C

    2005-04-01

    Approximately 60% of sporadic meningiomas are caused by inactivation of the NF2 tumor suppressor gene on chromosome 22. No causative gene is known for the remaining 40%. Cytogenetic analysis shows that meningiomas caused by inactivation of the NF2 gene can be divided into tumors that show monosomy 22 as the sole abnormality and tumors with a more complex karyotype. Meningiomas not caused by the NF2 gene usually have a diploid karyotype. Here we report that, besides the clonal chromosomal aberrations, the chromosome numbers in many meningiomas varied from one metaphase spread to the other, a feature that is indicative of chromosomal instability. Unexpectedly and regardless of genotype, a subgroup of tumors was observed with an average number of 44.9 chromosomes and little variation in the number of chromosomes per metaphase spread. In addition, a second subgroup was recognized with a hyperdiploid number of chromosomes (average 48.5) and considerable variation in numbers per metaphase. However, this numerical instability resulted in a clonal karyotype with chromosomal gains and losses in addition to loss of chromosome 22 only in meningiomas caused by inactivation of the NF2 gene. In cultured cells of all tumor groups, bi- and multinucleated cells were seen, as well as anaphase bridges, residual chromatid strings, multiple spindle poles, and unseparated chromatids, suggesting defects in the mitotic apparatus or kinetochore. Thus, we conclude that even a benign and slow-growing tumor like a meningioma displays chromosomal instability.

  11. Unilateral Molar Distalization: A Nonextraction Therapy

    Directory of Open Access Journals (Sweden)

    M. Bhanu Prasad

    2012-01-01

    Full Text Available In the recent years, nonextraction treatment approaches and noncompliance therapies have become more popular in the correction of space discrepancies. One of the conventional approaches for space gaining in the arches without patient compliance is done by using certain extra oral appliances or intraoral appliance. The greatest advantage of certain appliances like fixed functional and molar distalization appliances is that they minimize the dependence on patient cooperation. Molar distalization appliances like pendulum appliance which distalizes the molar rapidly without the need of head gear can be used in patients as a unilateral space gaining procedure due to buccal segment crowding.

  12. The distal hereditary motor neuropathies.

    Science.gov (United States)

    Rossor, Alexander M; Kalmar, Bernadett; Greensmith, Linda; Reilly, Mary M

    2012-01-01

    The distal hereditary motor neuropathies (dHMN) comprise a heterogeneous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of amyotrophic lateral sclerosis and hereditary spastic paraplegia. Eleven causative genes and four loci have been identified with autosomal dominant, recessive and X-linked patterns of inheritance. Despite advances in the identification of novel gene mutations, 80% of patients with dHMN have a mutation in an as-yet undiscovered gene. The causative genes have implicated proteins with diverse functions such as protein misfolding (HSPB1, HSPB8, BSCL2), RNA metabolism (IGHMBP2, SETX, GARS), axonal transport (HSPB1, DYNC1H1, DCTN1) and cation-channel dysfunction (ATP7A and TRPV4) in motor-nerve disease. This review will summarise the clinical features of the different subtypes of dHMN to help focus genetic testing for the practising clinician. It will also review the neuroscience that underpins our current understanding of how these mutations lead to a motor-specific neuropathy and highlight potential therapeutic strategies. An understanding of the functional consequences of gene mutations will become increasingly important with the advent of next-generation sequencing and the need to determine the pathogenicity of large amounts of individual genetic data.

  13. Analysis of plant meiotic chromosomes by chromosome painting.

    Science.gov (United States)

    Lysak, Martin A; Mandáková, Terezie

    2013-01-01

    Chromosome painting (CP) refers to visualization of large chromosome regions, entire chromosome arms, or entire chromosomes via fluorescence in situ hybridization (FISH). For CP in plants, contigs of chromosome-specific bacterial artificial chromosomes (BAC) from the target species or from a closely related species (comparative chromosome painting, CCP) are typically applied as painting probes. Extended pachytene chromosomes provide the highest resolution of CP in plants. CP enables identification and tracing of particular chromosome regions and/or entire chromosomes throughout all meiotic stages as well as corresponding chromosome territories in premeiotic interphase nuclei. Meiotic pairing and structural chromosome rearrangements (typically inversions and translocations) can be identified by CP. Here, we describe step-by-step protocols of CP and CCP in plant species including chromosome preparation, BAC DNA labeling, and multicolor FISH.

  14. Análisis de genes situados en el haplotipo H1 de la región 17q21 y de genes involucrados en la fosforilación de "tau" en la parálisis supranuclear progresiva

    OpenAIRE

    Campdelacreu i Fumadó, Jaume

    2007-01-01

    [spa] INTRODUCCIÓN: La parálisis supranuclear progresiva (PSP) se caracteriza por el depósito anormal de proteína tau hiperfosforilada en ganglios basales y tronco cerebral. Su etiología es desconocida y el único factor de riesgo genético conocido es su asociación con el haplotipo H1, que engloba un conjunto de polimorfismos en la región 17q21 incluyendo el gen tau y genes flanqueantes. Este haplotipo podría actuar modulando la expresión o el "splicing" de tau, pero existen otros genes candid...

  15. Análisis de genes situados en el haplotipo H1 de la región 17q21 y de genes involucrados en la fosforilación de "tau" en la parálisis supranuclear progresiva

    OpenAIRE

    Campdelacreu Fumadó, Jaume

    2007-01-01

    INTRODUCCIÓN: La parálisis supranuclear progresiva (PSP) se caracteriza por el depósito anormal de proteína tau hiperfosforilada en ganglios basales y tronco cerebral. Su etiología es desconocida y el único factor de riesgo genético conocido es su asociación con el haplotipo H1, que engloba un conjunto de polimorfismos en la región 17q21 incluyendo el gen tau y genes flanqueantes. Este haplotipo podría actuar modulando la expresión o el "splicing" de tau, pero existen otros genes candidatos i...

  16. Villous adenoma of the distal appendix.

    Science.gov (United States)

    Taylor, J V; Thomas, M G; Kelly, S; Sutton, R

    1997-04-01

    Villous adenoma confined to the distal appendix has not been previously reported in conjunction with acute apendicitis. The presence of an adenoma indicates a need for further investigation due to an association with neoplasia elsewhere.

  17. Genetics Home Reference: distal arthrogryposis type 1

    Science.gov (United States)

    ... This Page Bamshad M, Bohnsack JF, Jorde LB, Carey JC. Distal arthrogryposis type 1: clinical analysis of ... 5. Citation on PubMed Bamshad M, Jorde LB, Carey JC. A revised and extended classification of the ...

  18. Mechanisms for chromosome segregation.

    Science.gov (United States)

    Bouet, Jean-Yves; Stouf, Mathieu; Lebailly, Elise; Cornet, François

    2014-12-01

    Bacteria face the problem of segregating their gigantic chromosomes without a segregation period restricted in time and space, as Eukaryotes do. Segregation thus involves multiple activities, general or specific of a chromosome region and differentially controlled. Recent advances show that these various mechanisms conform to a “pair and release” rule, which appears as a general rule in DNA segregation. We describe the latest advances in segregation of bacterial chromosomes with emphasis on the different pair and release mechanisms.

  19. The Precarious Prokaryotic Chromosome

    OpenAIRE

    Kuzminov, Andrei

    2014-01-01

    Evolutionary selection for optimal genome preservation, replication, and expression should yield similar chromosome organizations in any type of cells. And yet, the chromosome organization is surprisingly different between eukaryotes and prokaryotes. The nuclear versus cytoplasmic accommodation of genetic material accounts for the distinct eukaryotic and prokaryotic modes of genome evolution, but it falls short of explaining the differences in the chromosome organization. I propose that the t...

  20. Çocuklarda Distal Hipospadias Cerrahisi: Deneyimlerimiz

    OpenAIRE

    2013-01-01

    Objective: In this study, patients treated with distal hypospadias and discuscion of our results with literature were aimed. Material and Methods: 46 patients, who underwent distal hypospadias repair in the recent 2,5 years, were avaluated according to age, meatal localization, chordee status, the type of operation technique, postoperative urethral catheterization and hospitalization time, associated genitourinary anomalies, early and late complications. Results: 4 of 46 cases were treated wi...

  1. Chromosome oscillations in mitosis

    Science.gov (United States)

    Campas, Otger

    2008-03-01

    Successful cell division necessitates a tight regulation of chromosome movement via the activity of molecular motors. Many of the key players at the origin of the forces generating the motion have been identified, but their spatial and temporal organization remains elusive. In animal cells, chromosomes periodically switch between phases of movement towards and away from the pole. This characteristic oscillatory behaviour cannot be explained by the current models of chromosome positioning and congression. We perform a self-contained theoretical analysis in which the motion of mono-oriented chromosomes results from the competition between the activity of the kinetochore and chromokinesin motors on the chromosome arms. Our analysis, consistent with the available experimental data, proposes that the interplay between the aster-like morphology of the spindle and the collective kinetics of molecular motors is at the origin of chromosome oscillations, positioning and congression. It provides a natural explanation for the so-called chromosome directional instability and for the mechanism by which chromosomes sense their position in space. In addition, we estimate the in vivo velocity of chromokinesins at vanishing load and propose new experiments to assess the mechanism at the origin of chromosome movement in cell division.

  2. Bacterial chromosome segregation.

    Science.gov (United States)

    Possoz, Christophe; Junier, Ivan; Espeli, Olivier

    2012-01-01

    Dividing cells have mechanisms to ensure that their genomes are faithfully segregated into daughter cells. In bacteria, the description of these mechanisms has been considerably improved in the recent years. This review focuses on the different aspects of bacterial chromosome segregation that can be understood thanks to the studies performed with model organisms: Escherichia coli, Bacillus subtilis, Caulobacter crescentus and Vibrio cholerae. We describe the global positionning of the nucleoid in the cell and the specific localization and dynamics of different chromosomal loci, kinetic and biophysic aspects of chromosome segregation are presented. Finally, a presentation of the key proteins involved in the chromosome segregation is made.

  3. Chromosomal Mapping of Repetitive DNAs in Myiopsitta monachus and Amazona aestiva (Psittaciformes, Psittacidae) with Emphasis on the Sex Chromosomes.

    Science.gov (United States)

    de Oliveira Furo, Ivanete; Kretschmer, Rafael; Dos Santos, Michelly S; de Lima Carvalho, Carlos A; Gunski, Ricardo J; O'Brien, Patrícia C M; Ferguson-Smith, Malcolm A; Cioffi, Marcelo B; de Oliveira, Edivaldo H C

    2017-01-01

    Here, for the first time, we describe the karyotype of Myiopsitta monachus (Psittacidae, Arini). We found 2n = 48, corresponding to the lowest diploid number observed in Neotropical Psittaciformes so far, with an uncommonly large W chromosome homomorphic to the Z. In order to better understand the evolution of the sex chromosomes in this species, we applied several molecular cytogenetic approaches, including C-banding, FISH mapping of repetitive DNAs (several microsatellite repeats), and whole-chromosome painting on metaphases of M. monachus. For comparison, another species belonging to the same tribe but with a smaller W chromosome (A. aestiva) was also analyzed. The results show that the constitutive heterochromatin has a very diverse distribution pattern in these species revealing heterochromatic blocks in the centromeric region of all chromosomes and in most of the length of the W chromosome in A. aestiva, while in M. monachus they were found in interstitial and telomeric regions. Concerning the microsatellites, only the sequence (CG)n produced signals on the W chromosome of A. aestiva, in the distal region of both arms. However, in M. monachus, (CAA)n, (CAG)n, and (CG)n probes were accumulated on the W chromosome, and, in addition, the sequence (CAG)n also hybridized to heterochromatic regions in macrochromosomes, as well as in microchromosomes. Based on these results, we suggest that the increase in length of the W chromosome in M. monachus is due to the amplification of repetitive elements, which highlights their significant role in the evolutionary process of sex chromosome differentiation. © 2017 S. Karger AG, Basel.

  4. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...... with women without elevated risk. Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis. It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk. Indications...

  5. Chromosomal imbalances in primary and metastatic melanomas: over-representation of essential telomerase genes.

    Science.gov (United States)

    Pirker, Christine; Holzmann, Klaus; Spiegl-Kreinecker, Sabine; Elbling, Leonilla; Thallinger, Christiane; Pehamberger, Hubert; Micksche, Michael; Berger, Walter

    2003-10-01

    Comparative genomic hybridization was used to map copy number abnormalities in 48 short-term cell cultures established from different stages and types of human melanoma. A variety of random and non-random chromosomal alterations were detected, with gains within chromosomes 20q, 7q, 7p, 20p, 6p and 17q and losses in 9p, 10q, 6q, 10p, 4q, and 11q being the most common observations. In addition, several other chromosomal loci were over- or under-represented in subgroups of melanomas. For example, sequences on 3q26 were over-represented in 33% and on 5p15.33 in 27% of cell cultures, reaching the level of amplification in 12% and 22%, respectively. These regions harbour the two essential genes for the enzyme telomerase: the telomerase reverse transcriptase gene (hTERT) on 5p15.33 and the telomerase RNA component gene (hTERC) on 3q26. Using fluorescence in situ hybridization and Southern blot analysis, both genes were shown to be over-represented or amplified in several melanomas. Interestingly, hTERT amplification was abundant in superficial spreading primary melanomas, subcutaneous metastases and malignant effusion-derived cells, but completely absent or very rare in primary nodular melanomas as well as brain, bone and lymph node metastases. Several chromosomes or chromosomal regions harbouring telomerase-suppressing activities (3p, 4, 6 and 10p) were frequently under-represented in melanomas. Our data suggest that genetic alterations at several chromosomal loci might facilitate activation of telomerase during the development of cutaneous malignant melanoma.

  6. XYY chromosome anomaly and schizophrenia.

    Science.gov (United States)

    Rajagopalan, M; MacBeth, R; Varma, S L

    1998-02-07

    Sex chromosome anomalies have been associated with psychoses, and most of the evidence is linked to the presence of an additional X chromosome. We report a patient with XYY chromosome anomaly who developed schizophrenia.

  7. Electochemical detection of chromosome translocation

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Silahtaroglu, Asli

    2014-01-01

    Cytogenetics is a study of the cell structure with a main focus on chromosomes content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders and heametological malignancies. Chromosome translocations are structural rearrangements of two chromoso...

  8. Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q

    Energy Technology Data Exchange (ETDEWEB)

    Fink, J.K.; Rainier, S.; Wilkowski, J.; Jones, S.M. [Univ. of Michigan, Ann Arbor, MI (United States)] [and others

    1996-07-01

    Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that last up to several hours and occur at rest both spontaneously and following caffeine or alcohol consumption. We analyzed a Polish-American kindred with autosomal dominant PDC and identified tight linkage between the disorder and microsatellite markers on chromosome 2q (maximum two-point LOD score 4.77; recombination fraction 0). Our results clearly establish the existence of a locus for autosomal dominant PDC on distal chromosome 2q. The fact that three other paroxysmal neurological disorders (periodic ataxia with myokymia and hypo- and hyperkalemic periodic paralysis) are due to mutation in ion-channel genes raises the possibility that PDC is also due to an ion-channel gene mutation. It is noteworthy that a cluster of sodium-channel genes is located on distal chromosome 2q, near the PDC locus. Identifying the PDC locus on chromosome 2q will facilitate discovery whether PDC is genetically homogeneous and whether other paroxysmal movement disorders are also genetically linked to the PDC locus. 28 refs., 2 figs., 1 tab.

  9. Sextant of Sapphires for Molar Distalization

    Science.gov (United States)

    Palla, Yudistar Venkata; Ganugapanta, Vivek Reddy

    2016-01-01

    Introduction Space analysis quantifies the amount of crowding within the arches estimating the severity of space discrepancy. The space gaining procedures include extraction and non-extraction procedures like expansion, proximal stripping and molar distalization. Aim To identify features seen in molar distalization cases. Materials and Methods The sample size comprised 20 patients in whom molar distalization was decided as the treatment plan. The study models and lateral cephalograms of all the patients were taken. Occlusograms were obtained. Model analysis and cephalometric analysis were performed. Descriptive statistical analysis like mean, standard deviation, standard error and mode were done. Results The parameters in Question gave following results. The Bolton analysis showed anterior mandibular excess with mean value of 1.56mm±1.07. The first order discrepancy between maxillary central and lateral incisors was 5±1.95. The premolar rotation showed mean value of 16.58±5.12. The molar rotation showed the value of 7.66±2.26. The nasolabial angle showed the mean of 101.25±8.7 IMPA of 101.4±5.74. Conclusion The six features studied in molar distalization cases [First order discrepancy between upper central and lateral incisors; Rotation of premolars and molars; Bolton’s discrepancy in anterior dentition; Average to horizontal growth pattern; Proclined lower incisors and Obtuse nasolabial angle] can be taken as patterns seen in molar distalization cases and considered as a valid treatment plan. PMID:27656572

  10. Isolation, cDNA, and genomic structure of a conserved gene (NOF) at chromosome 11q13 next to FAU and oriented in the opposite transcriptional orientation.

    Science.gov (United States)

    Kas, K; Lemahieu, V; Meyen, E; Van de Ven, W J; Merregaert, J

    1996-06-15

    In our effort to characterize a gene at chromosome 11q13 involved in a t(11;17)(q13;q21) translocation in B-non-Hodgkin lymphoma, we have identified a novel human gene, NOF (Neighbour of FAU). It maps right next to FAU in a head to head configuration separated by a maximum of 146 nucleotides. cDNA clones representing NOF hybridized to a 2. 2-kb mRNA present in all tissues tested. The largest open reading frame appeared to contain 166 amino acids and is proline rich, and the sequence shows no homology with any known gene in the public databases. The NOF gene consists of 4 exons and 3 introns spanning approximately 5 kb, and the boundaries between exons and introns follow the GT/AG rule. The NOF locus is conserved during evolution, with the predicted protein having over 80% identity to three translated mouse and rat ESTs of unknown function. Moreover, the mouse ESTs map in the same organization, closely linked to the FAU gene, in the mouse genome. NOF, however, is not affected by the t(11;17)(q13;q21) chromosomal translocation.

  11. Topographic matching of distal radius and proximal fibula articular surface for distal radius osteoarticular reconstruction.

    Science.gov (United States)

    Zhang, H; Chen, S; Wang, Z; Guo, Y; Liu, B; Tong, D

    2016-07-01

    During osteoarticular reconstruction of the distal radius with the proximal fibula, congruity between the two articular surfaces is an important factor in determining the quality of the outcome. In this study, a three-dimensional model and a coordinate transformation algorithm were developed on computed tomography scanning. Articular surface matching was performed and parameters for the optimal position were determined quantitatively. The mean radii of best-fit spheres of the articular surfaces of the distal radius and proximal fibula were compared quantitatively. The radial inclination and volar tilt following reconstruction by an ipsilateral fibula graft, rather than the contralateral, best resembles the values of the native distal radius. Additionally, the ipsilateral fibula graft reconstructed a larger proportion of the distal radius articular surface than did the contralateral. The ipsilateral proximal fibula graft provides a better match for the reconstruction of the distal radius articular surface than the contralateral, and the optimal position for graft placement is quantitatively determined.

  12. Genomic imbalances in 5918 malignant epithelial tumors: an explorative meta-analysis of chromosomal CGH data

    Directory of Open Access Journals (Sweden)

    Baudis Michael

    2007-12-01

    Full Text Available Abstract Background Chromosomal abnormalities have been associated with most human malignancies, with gains and losses on some genomic regions associated with particular entities. Methods Of the 15429 cases collected for the Progenetix molecular-cytogenetic database, 5918 malignant epithelial neoplasias analyzed by chromosomal Comparative Genomic Hybridization (CGH were selected for further evaluation. For the 22 clinico-pathological entities with more than 50 cases, summary profiles for genomic imbalances were generated from case specific data and analyzed. Results With large variation in overall genomic instability, recurring genomic gains and losses were prominent. Most entities showed frequent gains involving 8q2, while gains on 20q, 1q, 3q, 5p, 7q and 17q were frequent in different entities. Loss "hot spots" included 3p, 4q, 13q, 17p and 18q among others. Related average imbalance patterns were found for clinically distinct entities, e.g. hepatocellular carcinomas (ca. and ductal breast ca., as well as for histologically related entities (squamous cell ca. of different sites. Conclusion Although considerable case-by-case variation of genomic profiles can be found by CGH in epithelial malignancies, a limited set of variously combined chromosomal imbalances may be typical for carcinogenesis. Focus on the respective regions should aid in target gene detection and pathway deduction.

  13. Chromosomal mosaicism goes global

    Directory of Open Access Journals (Sweden)

    Yurov Yuri B

    2008-11-01

    Full Text Available Intercellular differences of chromosomal content in the same individual are defined as chromosomal mosaicism (alias intercellular or somatic genomic variations or, in a number of publications, mosaic aneuploidy. It has long been suggested that this phenomenon poorly contributes both to intercellular (interindividual diversity and to human disease. However, our views have recently become to change due to a series of communications demonstrated a higher incidence of chromosomal mosaicism in diseased individuals (major psychiatric disorders and autoimmune diseases as well as depicted chromosomal mosaicism contribution to genetic diversity, the central nervous system development, and aging. The later has been produced by significant achievements in the field of molecular cytogenetics. Recently, Molecular Cytogenetics has published an article by Maj Hulten and colleagues that has provided evidences for chromosomal mosaicism to underlie formation of germline aneuploidy in human female gametes using trisomy 21 (Down syndrome as a model. Since meiotic aneuploidy is suggested to be the leading genetic cause of human prenatal mortality and postnatal morbidity, these data together with previous findings define chromosomal mosaicism not as a casual finding during cytogenetic analyses but as a more significant biological phenomenon than previously recognized. Finally, the significance of chromosomal mosaicism can be drawn from the fact, that this phenomenon is involved in genetic diversity, normal and abnormal prenatal development, human diseases, aging, and meiotic aneuploidy, the intrinsic cause of which remains, as yet, unknown.

  14. The mating-type chromosome in the filamentous ascomycete Neurospora tetrasperma represents a model for early evolution of sex chromosomes.

    Directory of Open Access Journals (Sweden)

    Audrius Menkis

    2008-03-01

    Full Text Available We combined gene divergence data, classical genetics, and phylogenetics to study the evolution of the mating-type chromosome in the filamentous ascomycete Neurospora tetrasperma. In this species, a large non-recombining region of the mating-type chromosome is associated with a unique fungal life cycle where self-fertility is enforced by maintenance of a constant state of heterokaryosis. Sequence divergence between alleles of 35 genes from the two single mating-type component strains (i.e. the homokaryotic mat A or mat a-strains, derived from one N. tetrasperma heterokaryon (mat A+mat a, was analyzed. By this approach we were able to identify the boundaries and size of the non-recombining region, and reveal insight into the history of recombination cessation. The non-recombining region covers almost 7 Mbp, over 75% of the chromosome, and we hypothesize that the evolution of the mating-type chromosome in this lineage involved two successive events. The first event was contemporaneous with the split of N. tetrasperma from a common ancestor with its outcrossing relative N. crassa and suppressed recombination over at least 6.6 Mbp, and the second was confined to a smaller region in which recombination ceased more recently. In spite of the early origin of the first "evolutionary stratum", genealogies of five genes from strains belonging to an additional N. tetrasperma lineage indicate independent initiations of suppressed recombination in different phylogenetic lineages. This study highlights the shared features between the sex chromosomes found in the animal and plant kingdoms and the fungal mating-type chromosome, despite fungi having no separate sexes. As is often found in sex chromosomes of plants and animals, recombination suppression of the mating-type chromosome of N. tetrasperma involved more than one evolutionary event, covers the majority of the mating-type chromosome and is flanked by distal regions with obligate crossovers.

  15. Physeal arrest of the distal radius.

    Science.gov (United States)

    Abzug, Joshua M; Little, Kevin; Kozin, Scott H

    2014-06-01

    Fractures of the distal radius are among the most common pediatric fractures. Although most of these fractures heal without complication, some result in partial or complete physeal arrest. The risk of physeal arrest can be reduced by avoiding known risk factors during fracture management, including multiple attempts at fracture reduction. Athletes may place substantial compressive and shear forces across the distal radial physes, making them prone to growth arrest. Timely recognition of physeal arrest can allow for more predictable procedures to be performed, such as distal ulnar epiphysiodesis. In cases of partial arrest, physeal bar excision with interposition grafting can be performed. Once ulnar abutment is present, more invasive procedures may be required, including ulnar shortening osteotomy or radial lengthening.

  16. CHONDROBLASTOMA IN DISTAL TIBIA - A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Chinmaya

    2013-04-01

    Full Text Available INTRODUCTION: Chondroblastoma was first described as calcified gi ant cell tumour by Ewing. Codman described it as epiphyseal chondromatous giant cell tumour. Jaffe and Lichtenstein named it as chondroblastoma, a rare benign cartilag inous tumour. It represents less than 1% of all primary bone tumours and most commonly originate from the epiphyses of long bones, particularly from the epiphyses of the proximal and dis tal parts of the femur, the proximal part of the humerus, and the proximal part of the tibia. O ther reported sites are talus, scapula , patella, pelvis, distal radius, distal tibia , ribs, proximal fibula, calcaneum. Its occurrence in distal tibia is very rare with 2 documented cases in UK from 1974 to 2000, 3 documented cases in FRANCE from 1950 to 200 5 , no documented case from 1977 to 2000 in Harvard, USA. The purpose is to present a rare tumour occurring at an unusual site.

  17. A 6. 5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22

    Energy Technology Data Exchange (ETDEWEB)

    Vetrie, D.; Kendall, E.; Coffey, A.; Hassock, S.; Collins, J.; Todd, C.; Bobrow, M.; Bentley, D.R. (Paediatric Research Unit, London (United Kingdom)); Lehrach, H. (Imperial Cancer Research Fund, London (United Kingdom)); Harris, A. (John Radcliffe Hospital, Oxford (United Kingdom))

    1994-01-01

    The Xq22 region of the human X chromosome contains genes for a number of inherited disorders. Sixty-nine yeast artificial chromosome clones have been isolated and assembled into a 6.5-Mb contig that contains 33 DNA markers localized to this region. This contig extends distally from DXS366 to beyond DXS87 and includes the genes involved in X-linked agammaglobulinemia (btk), Fabry disease (GLA), and Pelizaeus-Merzbacher disease (PLP). The order of markers in this contig is consistent with the known genetic and physical mapping information of Xq22. This cloned material provides a source from which to isolate other genes located in this part of the X chromosome. 45 refs., 2 figs., 2 tabs.

  18. CHROMOSOMES OF AMERICAN MARSUPIALS.

    Science.gov (United States)

    BIGGERS, J D; FRITZ, H I; HARE, W C; MCFEELY, R A

    1965-06-18

    Studies of the chromosomes of four American marsupials demonstrated that Caluromys derbianus and Marmosa mexicana have a diploid number of 14 chromosomes, and that Philander opossum and Didelphis marsupialis have a diploid number of 22. The karyotypes of C. derbianus and M. mexicana are similar, whereas those of P. opossum and D. marsupialis are dissimilar. If the 14-chromosome karyotype represents a reduction from a primitive number of 22, these observations suggest that the change has occurred independently in the American and Australasian forms.

  19. Management of Malunions of the Distal Radius

    OpenAIRE

    Yaniel Truffin Rodriguez; Osmany Pérez Martínez; Rafael Esmandy Gómez Arregoitía; Indira L. Gómez Gil

    2015-01-01

    Fractures of the distal radius often present with a group of major complications. Of these, malunion is one of the most disabling. Its management through salvage procedures is essential for its correction. The case of a 60-year-old healthy woman of urban origin treated at the Dr. Gustavo Aldereguía Lima University General Hospital in Cienfuegos because of a malunion of the distal end of the left radius as a result of a previous Colles' fracture is presented. The patient complained of severe p...

  20. Contemporary Management of Primary Distal Urethral Cancer.

    Science.gov (United States)

    Traboulsi, Samer L; Witjes, Johannes Alfred; Kassouf, Wassim

    2016-11-01

    Primary urethral cancer is one of the rare urologic tumors. Distal urethral tumors are usually less advanced at diagnosis compared with proximal tumors and have a good prognosis if treated appropriately. Low-stage distal tumors can be managed successfully with a surgical approach in men or radiation therapy in women. There are no clear-cut indications for the choice of the most appropriate treatment modality. Organ-preserving modalities have shown effective and should be used whenever they do not compromise the oncological safety to decrease the physical and psychological trauma of dismemberment or loss of sexual/urinary function. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Calcifying aponeurotic fibroma of the distal phalanx.

    Science.gov (United States)

    Schonauer, Fabrizio; Avvedimento, Stefano; Molea, Guido

    2013-02-01

    Calcifying aponeurotic fibroma is a rare benign soft tissue tumor that primarily occurs on the distal portion of the extremities of children and adolescents. It appears like a firm, painless and slowly growing mass with high local recurrence rates. The lesion has characteristic histological features with areas of proliferative plumps of fibroblasts, chondrocytes and foci of calcification. We present a case of calcifying aponeurotic fibroma of the sub-ungual area of the index finger distal phalanx with bone erosion, surgically treated. A 2 year follow up showed satisfactory functional result and no evidence of recurrence.

  2. Distal splenorenal shunt with partial spleen resection

    Directory of Open Access Journals (Sweden)

    Gajin Predrag

    2007-01-01

    Full Text Available Introduction: Hypersplenism is a common complication of portal hypertension. Cytopenia in hypersplenism is predominantly caused by splenomegaly. Distal splenorenal shunt (Warren with partial spleen resection is an original surgical technique that regulates cytopenia by reduction of the enlarged spleen. Objective. The aim of our study was to present the advantages of distal splenorenal shunt (Warren with partial spleen resection comparing morbidity and mortality in a group of patients treated by distal splenorenal shunt with partial spleen resection with a group of patients treated only by a distal splenorenal shunt. Method. From 1995 to 2003, 41 patients with portal hypertension were surgically treated due to hypersplenism and oesophageal varices. The first group consisted of 20 patients (11 male, mean age 42.3 years who were treated by distal splenorenal shunt with partial spleen resection. The second group consisted of 21 patients (13 male, mean age 49.4 years that were treated by distal splenorenal shunt only. All patients underwent endoscopy and assessment of oesophageal varices. The size of the spleen was evaluated by ultrasound, CT or by scintigraphy. Angiography was performed in all patients. The platelet and white blood cell count and haemoglobin level were registered. Postoperatively, we noted blood transfusion, complications and total hospital stay. Follow-up period was 12 months, with first checkup after one month. Results In the first group, only one patient had splenomegaly postoperatively (5%, while in the second group there were 13 patients with splenomegaly (68%. Before surgery, the mean platelet count in the first group was 51.6±18.3x109/l, to 118.6±25.4x109/l postoperatively. The mean platelet count in the second group was 67.6±22.8x109/l, to 87.8±32.1x109/l postoperatively. Concerning postoperative splenomegaly, statistically significant difference was noted between the first and the second group (p<0.05. Comparing the

  3. Influence of different chromosomal abnormalities in Ph-positive bone marrow cells on the chronic myeloid leukemia course during tyrosine kinase inhibitors therapy

    Directory of Open Access Journals (Sweden)

    O. Yu. Vinogradova

    2012-01-01

    Full Text Available The additional molecular and chromosomal abnormalities (ACA in Phositive cells usually considered as a genetic marker of chronic myeloid leukemia (CML progression. 457 patients in different CML phases received tyrosine kinase inhibitors (1st and 2nd generation were studied. During therapy 50 cases with additional chromosomal abnormalities in Ph+ clone (22 of them in chronic CML phase were revealed (median follow-up from CML diagnosis – 117 months, median imatinib therapy – 62 months. 86 % of patients in chronic phase with Ph+- cell abnormalities were cytogenetic resistance, and their 5-years overall survival was 80 % which was significantly lower than in patients without ACA (p < 0.005. The treatment results depend on chromosomal abnormalities detected. In patients with additional chromosome 8 imatinib therapy is effective, although complete cytogenetic response (CCR is achieved only in the later therapy stages. In patients with additional translocations CCR also achieved with imatinib or 2nd generation TKI. Only a third of patients with additional Ph-chromosome or BCR/ABL amplification achieved complete suppression of Ph+ clone using 2nd generation TKI. The presence of additional chromosome 7 abnormalities and complex karyotype disorders involving isochromosome i(17(q10 are poor prognostic factors of TKI treatment failures.

  4. Influence of different chromosomal abnormalities in Ph-positive bone marrow cells on the chronic myeloid leukemia course during tyrosine kinase inhibitors therapy

    Directory of Open Access Journals (Sweden)

    O. Yu. Vinogradova

    2014-07-01

    Full Text Available The additional molecular and chromosomal abnormalities (ACA in Phositive cells usually considered as a genetic marker of chronic myeloid leukemia (CML progression. 457 patients in different CML phases received tyrosine kinase inhibitors (1st and 2nd generation were studied. During therapy 50 cases with additional chromosomal abnormalities in Ph+ clone (22 of them in chronic CML phase were revealed (median follow-up from CML diagnosis – 117 months, median imatinib therapy – 62 months. 86 % of patients in chronic phase with Ph+- cell abnormalities were cytogenetic resistance, and their 5-years overall survival was 80 % which was significantly lower than in patients without ACA (p < 0.005. The treatment results depend on chromosomal abnormalities detected. In patients with additional chromosome 8 imatinib therapy is effective, although complete cytogenetic response (CCR is achieved only in the later therapy stages. In patients with additional translocations CCR also achieved with imatinib or 2nd generation TKI. Only a third of patients with additional Ph-chromosome or BCR/ABL amplification achieved complete suppression of Ph+ clone using 2nd generation TKI. The presence of additional chromosome 7 abnormalities and complex karyotype disorders involving isochromosome i(17(q10 are poor prognostic factors of TKI treatment failures.

  5. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  6. Dynamics of rye chromosome 1R regions with high or low crossover frequency in homology search and synapsis development.

    Directory of Open Access Journals (Sweden)

    Nohelia T Valenzuela

    Full Text Available In many organisms, homologous pairing and synapsis depend on the meiotic recombination machinery that repairs double-strand DNA breaks (DSBs produced at the onset of meiosis. The culmination of recombination via crossover gives rise to chiasmata, which locate distally in many plant species such as rye, Secale cereale. Although, synapsis initiates close to the chromosome ends, a direct effect of regions with high crossover frequency on partner identification and synapsis initiation has not been demonstrated. Here, we analyze the dynamics of distal and proximal regions of a rye chromosome introgressed into wheat to define their role on meiotic homology search and synapsis. We have used lines with a pair of two-armed chromosome 1R of rye, or a pair of telocentrics of its long arm (1RL, which were homozygous for the standard 1RL structure, homozygous for an inversion of 1RL that changes chiasma location from distal to proximal, or heterozygous for the inversion. Physical mapping of recombination produced in the ditelocentric heterozygote (1RL/1RL(inv showed that 70% of crossovers in the arm were confined to a terminal segment representing 10% of the 1RL length. The dynamics of the arms 1RL and 1RL(inv during zygotene demonstrates that crossover-rich regions are more active in recognizing the homologous partner and developing synapsis than crossover-poor regions. When the crossover-rich regions are positioned in the vicinity of chromosome ends, their association is facilitated by telomere clustering; when they are positioned centrally in one of the two-armed chromosomes and distally in the homolog, their association is probably derived from chromosome elongation. On the other hand, chromosome movements that disassemble the bouquet may facilitate chromosome pairing correction by dissolution of improper chromosome associations. Taken together, these data support that repair of DSBs via crossover is essential in both the search of the homologous partner

  7. Paralogous sm22alpha (Tagln) genes map to mouse chromosomes 1 and 9: further evidence for a paralogous relationship.

    Science.gov (United States)

    Stanier, P; Abu-Hayyeh, S; Murdoch, J N; Eddleston, J; Copp, A J

    1998-07-01

    SM22alpha (TAGLN) is one of the earliest markers of differentiated smooth muscle, being expressed exclusively in the smooth muscle cells of adult tissues and transiently in embryonic skeletal and cardiac tissues. We have identified and mapped the mouse Tagln gene and a closely related gene, Sm22alpha homolog (Tagln2). The chromosomal localization for Tagln was identified by linkage analysis to distal mouse chromosome 9 between D9Mit154 and D9Mit330, closely linked to the anchor locus D9Nds10. The localization of Tagln2 was also determined and was found to map between Fcgr2 and D1Mit149 on distal mouse chromosome 1. This localization is homologous to a region of human 1q21-q25 to which an EST representing human TAGLN2 was previously mapped. The two regions, distal mouse chromosome 1 and proximal mouse chromosome 9, and the human regions with conserved synteny (1q21-q25 and 11q22-qter) are believed to be paralogous, reflecting either conserved remnants of duplicated chromosomes or segments of chromosomes during vertebrate evolution. Copyright 1998 Academic Press.

  8. [Sex chromosomes and meiosis].

    Science.gov (United States)

    Guichaoua, M-R; Geoffroy-Siraudin, C; Tassistro, V; Ghalamoun-Slaimi, R; Perrin, J; Metzler-Guillemain, C

    2009-01-01

    Sex chromosome behaviour fundamentally differs between male and female meiosis. In oocyte, X chromosomes synapse giving a XX bivalent which is not recognizable in their morphology and behaviour from autosomal bivalents. In human male, X and Y chromosomes differ from one another in their morphology and their genetic content, leading to a limited pairing and preventing genetic recombination, excepted in homologous region PAR1. During pachytene stage of the first meiotic prophase, X and Y chromosomes undergo a progressive condensation and form a transcriptionally silenced peripheral XY body. The condensation of the XY bivalent during pachytene stage led us to describe four pachytene substages and to localize the pachytene checkpoint between substages 2 and 3. We also defined the pachytene index (PI=P1+P2/P1+P2+P3+P4) which is always less than 0.50 in normal meiosis. XY body undergoes decondensation at diplotene stage, but transcriptional inactivation of the two sex chromosomes or Meiotic Sex Chromosome Inactivation (MSCI) persists through to the end of spermatogenesis. Sex chromosome inactivation involves several proteins, some of them were now identified. Two isoforms of the HP1 protein, HP1beta and HP1gamma, are involved in the facultative heterochromatinization of the XY body, but the initiation of this process involves the phosphorylation of the protein H2AX by the kinase ATR whose recruitment depends on BRCA1. Extensive researches on the inactivation of the sex chromosomes during male meiosis will allow to a better understanding of some male infertilities.

  9. Chromosome doubling method

    Science.gov (United States)

    Kato, Akio

    2006-11-14

    The invention provides methods for chromosome doubling in plants. The technique overcomes the low yields of doubled progeny associated with the use of prior techniques for doubling chromosomes in plants such as grasses. The technique can be used in large scale applications and has been demonstrated to be highly effective in maize. Following treatment in accordance with the invention, plants remain amenable to self fertilization, thereby allowing the efficient isolation of doubled progeny plants.

  10. ATM limits incorrect end utilization during non-homologous end joining of multiple chromosome breaks.

    Science.gov (United States)

    Bennardo, Nicole; Stark, Jeremy M

    2010-11-04

    Chromosome rearrangements can form when incorrect ends are matched during end joining (EJ) repair of multiple chromosomal double-strand breaks (DSBs). We tested whether the ATM kinase limits chromosome rearrangements via suppressing incorrect end utilization during EJ repair of multiple DSBs. For this, we developed a system for monitoring EJ of two tandem DSBs that can be repaired using correct ends (Proximal-EJ) or incorrect ends (Distal-EJ, which causes loss of the DNA between the DSBs). In this system, two DSBs are induced in a chromosomal reporter by the meganuclease I-SceI. These DSBs are processed into non-cohesive ends by the exonuclease Trex2, which leads to the formation of I-SceI-resistant EJ products during both Proximal-EJ and Distal-EJ. Using this method, we find that genetic or chemical disruption of ATM causes a substantial increase in Distal-EJ, but not Proximal-EJ. We also find that the increase in Distal-EJ caused by ATM disruption is dependent on classical non-homologous end joining (c-NHEJ) factors, specifically DNA-PKcs, Xrcc4, and XLF. We present evidence that Nbs1-deficiency also causes elevated Distal-EJ, but not Proximal-EJ, to a similar degree as ATM-deficiency. In addition, to evaluate the roles of these factors on end processing, we examined Distal-EJ repair junctions. We found that ATM and Xrcc4 limit the length of deletions, whereas Nbs1 and DNA-PKcs promote short deletions. Thus, the regulation of end processing appears distinct from that of end utilization. In summary, we suggest that ATM is important to limit incorrect end utilization during c-NHEJ.

  11. ATM limits incorrect end utilization during non-homologous end joining of multiple chromosome breaks.

    Directory of Open Access Journals (Sweden)

    Nicole Bennardo

    2010-11-01

    Full Text Available Chromosome rearrangements can form when incorrect ends are matched during end joining (EJ repair of multiple chromosomal double-strand breaks (DSBs. We tested whether the ATM kinase limits chromosome rearrangements via suppressing incorrect end utilization during EJ repair of multiple DSBs. For this, we developed a system for monitoring EJ of two tandem DSBs that can be repaired using correct ends (Proximal-EJ or incorrect ends (Distal-EJ, which causes loss of the DNA between the DSBs. In this system, two DSBs are induced in a chromosomal reporter by the meganuclease I-SceI. These DSBs are processed into non-cohesive ends by the exonuclease Trex2, which leads to the formation of I-SceI-resistant EJ products during both Proximal-EJ and Distal-EJ. Using this method, we find that genetic or chemical disruption of ATM causes a substantial increase in Distal-EJ, but not Proximal-EJ. We also find that the increase in Distal-EJ caused by ATM disruption is dependent on classical non-homologous end joining (c-NHEJ factors, specifically DNA-PKcs, Xrcc4, and XLF. We present evidence that Nbs1-deficiency also causes elevated Distal-EJ, but not Proximal-EJ, to a similar degree as ATM-deficiency. In addition, to evaluate the roles of these factors on end processing, we examined Distal-EJ repair junctions. We found that ATM and Xrcc4 limit the length of deletions, whereas Nbs1 and DNA-PKcs promote short deletions. Thus, the regulation of end processing appears distinct from that of end utilization. In summary, we suggest that ATM is important to limit incorrect end utilization during c-NHEJ.

  12. ATM limits incorrect end utilization during non-homologous end joining of multiple chromosome breaks.

    Directory of Open Access Journals (Sweden)

    Nicole Bennardo

    2010-11-01

    Full Text Available Chromosome rearrangements can form when incorrect ends are matched during end joining (EJ repair of multiple chromosomal double-strand breaks (DSBs. We tested whether the ATM kinase limits chromosome rearrangements via suppressing incorrect end utilization during EJ repair of multiple DSBs. For this, we developed a system for monitoring EJ of two tandem DSBs that can be repaired using correct ends (Proximal-EJ or incorrect ends (Distal-EJ, which causes loss of the DNA between the DSBs. In this system, two DSBs are induced in a chromosomal reporter by the meganuclease I-SceI. These DSBs are processed into non-cohesive ends by the exonuclease Trex2, which leads to the formation of I-SceI-resistant EJ products during both Proximal-EJ and Distal-EJ. Using this method, we find that genetic or chemical disruption of ATM causes a substantial increase in Distal-EJ, but not Proximal-EJ. We also find that the increase in Distal-EJ caused by ATM disruption is dependent on classical non-homologous end joining (c-NHEJ factors, specifically DNA-PKcs, Xrcc4, and XLF. We present evidence that Nbs1-deficiency also causes elevated Distal-EJ, but not Proximal-EJ, to a similar degree as ATM-deficiency. In addition, to evaluate the roles of these factors on end processing, we examined Distal-EJ repair junctions. We found that ATM and Xrcc4 limit the length of deletions, whereas Nbs1 and DNA-PKcs promote short deletions. Thus, the regulation of end processing appears distinct from that of end utilization. In summary, we suggest that ATM is important to limit incorrect end utilization during c-NHEJ.

  13. Activation of X Chromosome Inactivation

    NARCIS (Netherlands)

    C.M. Maduro (Cheryl)

    2016-01-01

    markdownabstractIn mammals, males are the heterogametic sex having an X chromosome and a Y chromosome whereas females have two X chromosomes. Despite originating from an ancient homologous autosomal pair, the X and Y chromosome now differ greatly in size and gene content after ~180 MY of evolution.

  14. Activation of X Chromosome Inactivation

    NARCIS (Netherlands)

    C.M. Maduro (Cheryl)

    2016-01-01

    markdownabstractIn mammals, males are the heterogametic sex having an X chromosome and a Y chromosome whereas females have two X chromosomes. Despite originating from an ancient homologous autosomal pair, the X and Y chromosome now differ greatly in size and gene content after ~180 MY of evolution.

  15. Hyperextension trauma to the elbow joint induced through the distal ulna or the distal radius

    DEFF Research Database (Denmark)

    Tyrdal, Stein; Olsen, Bo Sanderhoff

    1998-01-01

    Loads applied to the forearm result in hyperextension of the elbow. The pathomechanics of hyperextension trauma with load applied to the distal radius and ulna were studied in 10 macroscopically normal cadaver elbow joint specimens to reveal patterns of injury with radial traction (n = 5) compared...... trauma to the elbow joint induced through the distal ulna or the distal radius produced the same pattern of injury as reported in hyperextension of the elbow with traction to the forearm when free rotation of the radius relative to the ulna was allowed....

  16. Intramedullary nailing in distal tibial fracture

    Directory of Open Access Journals (Sweden)

    Damian Arroquy

    2015-11-01

    Methods The inclusion criteria of this study were skeletally mature patients with displaced fractures of the distal tibia treated with intramedullary nail with a minimum follow up of one year. Gustilo III open fractures and type C fractures of the AO classification (complete articular Stroke were excluded. The sample comprised 35 patients remained. The follow-up was 29.2 months. We evaluated the time of consolidation, malunion and complications. The functional results were described according to the AOFAS score. Results Of the 35 patients with fracture of the distal third of the tibia all of them presented fracture healing. The average time to union was 17.2 weeks (range: 11-26. Of the total sample, 5 patients had delayed union, requiring dynamic nail on average at 12 weeks. The malunion was present in 4 (11.4% patients. We found no  difference (p = 0.201 in the time to union between fractures associated with fractures of the fibula treated (13sem or not (17sem. The AOFAS score was 86 points. Conclusion Intramedullary nailing with multiple distal locks like a good alternative treatment for distal tibia fractures AO type A or B, with low complication rate and a high rate of consolidation.

  17. Conceptualizing distal drivers in land use competition

    DEFF Research Database (Denmark)

    Niewhöner, Jörg; Nielsen, Jonas Ø; Gasparri, Gasparri

    2016-01-01

    This introductory chapter explores the notion of ‘distal drivers’ in land use competition. Research has moved beyond proximate causes of land cover and land use change to focus on the underlying drivers of these dynamics. We discuss the framework of telecoupling within human–environment systems...

  18. Double Plating of Distal Fibula Fractures.

    Science.gov (United States)

    Vance, Danica D; Vosseller, J Turner

    2017-02-01

    Distal fibula fractures are common orthopaedic injuries that often require open reduction internal fixation (ORIF) to anatomically reduce the fracture and minimize the risk of posttraumatic arthritis. In certain clinical situations, stouter fixation may be advantageous to decrease the risk of fixation failure. In this study, the authors report on 12 patients who underwent distal fibula ORIF with 2 one-third tubular plates. Twelve consecutive patients who underwent distal fibula ORIF with 2 one-third tubular plates were retrospectively reviewed. Clinical and radiographic outcomes were reviewed, and functional outcomes were obtained using the Foot and Ankle Outcome Score (FAOS). Institutional review board approval was obtained. All 12 fractures healed clinically and radiographically. One patient was lost to follow-up after healing of the fracture. One patient had removal of fibular hardware at 15 months after surgery. Ten patients had no hardware related pain and good ankle function. FAOS scores were obtained at a mean of 25.6 months after surgery and were as follows: pain (87.6, SD = 9.5), activities of daily living (90.4, SD = 14.5), symptoms (93.3, SD = 9.5), sports (89.5, SD = 18.1), and quality of life (57.4, SD = 21.3). Double plating of distal fibula fractures is a viable technique for problem fractures that potentially provides a readily accessible, low-cost alternative to other means of enhancing fixation. Level IV.

  19. Potassium secretion in mammalian distal colon

    DEFF Research Database (Denmark)

    Sørensen, Mads Vaarby

    2009-01-01

    pre-mRNA splicing and that at least one splice variant could be activated with cAMP. Using molecular biological techniques two different BK subunit splice variants both expressed in the distal colonic epithelial were identified. By the use of two different knock-out mice models, the BK-/- and the CFTR...

  20. Preferential response of acute myeloid leukemias with translocation involving chromosome 17 to human recombinant granulocyte colony-stimulating factor.

    Science.gov (United States)

    Pébusque, M J; Lafage, M; Lopez, M; Mannoni, P

    1988-07-01

    Induction of proliferation and differentiation in response to the addition of recombinant human granulocyte colony-stimulating factor (G-CSF) was studied by both suspension and semisolid cultures in a series of acute myeloid leukemias (AML). Induction of proliferation by G-CSF alone was observed in six of 27 cases of AML. All acute promyelocytic leukemias with the specific chromosomal translocation t(15;17) and one case of myelomonocytic leukemia with balanced chromosomal translocation involving chromosome 17 at band q12q21 were induced to proliferate strongly by the G-CSF. However, contrary to the long-term proliferative effect observed with granulocyte/macrophage colony-stimulating factor (GM-CSF), G-CSF activity can be characterized by its capability to initiate and promote the growth of responding AML cells but not to sustain long-term proliferation. Finally, no terminal differentiation was found, as assessed by morphology, cytochemistry, and cell surface marker analysis. These results indicate that G-CSF may be sufficient to provide a specific signal for induction of a transient proliferation in AML without induction of terminal differentiation. The cells with the highest response are clonal leukemia cells, all bearing a translocation involving the chromosome region 17q12q21 in which the G-CSF gene has been recently located.

  1. Location of chromosomes in the nucleus of human mesenchymal stem cells.

    Science.gov (United States)

    Lavrov, A V; Voldgorn, Y I

    2011-08-01

    For evaluation of the spatial structure of chromatin in nuclei of mesenchymal SC we determined the position of centromeres and individual chromosomes in interphase nucleus of mesenchymal SC. More than 300 nuclei in 7 cultures of mesenchymal SC were analyzed. Centromeres of chromosomes 6, 8, and 11 lie at a longer (0.68, 0.67, 0.7), while centromere of chromosome 18 at a shorter radial distance (0.49). Homologues of each chromosome had different radial distances. No differences in radial distances of centromeres were detected between mesenchymal SC from the adipose tissue and BM. After passage 8, distal displacement of chromosome 6 centromere (from 0.66 to 0.72) was observed, which probably indicates aging or spontaneous differentiation of cells.

  2. Vibrio chromosomes share common history

    Directory of Open Access Journals (Sweden)

    Gevers Dirk

    2010-05-01

    Full Text Available Abstract Background While most gamma proteobacteria have a single circular chromosome, Vibrionales have two circular chromosomes. Horizontal gene transfer is common among Vibrios, and in light of this genetic mobility, it is an open question to what extent the two chromosomes themselves share a common history since their formation. Results Single copy genes from each chromosome (142 genes from chromosome I and 42 genes from chromosome II were identified from 19 sequenced Vibrionales genomes and their phylogenetic comparison suggests consistent phylogenies for each chromosome. Additionally, study of the gene organization and phylogeny of the respective origins of replication confirmed the shared history. Conclusions Thus, while elements within the chromosomes may have experienced significant genetic mobility, the backbones share a common history. This allows conclusions based on multilocus sequence analysis (MLSA for one chromosome to be applied equally to both chromosomes.

  3. Genetic and physical mapping of the bovine X chromosome

    Energy Technology Data Exchange (ETDEWEB)

    Yeh, Chen Chen; Taylor, J.F.; Sanders, J. O. [Texas A& M Univ., College Station, TX (United States)] [and others

    1996-03-01

    Three hundred eighty reciprocal backcross and F{sub 2} full sib progeny from 33 families produced by embryo transfer from 77 Angus (Bos taurus), Brahman (Bos indicus), and F{sub 1} parents and grandparents were used to construct genetic maps of the bovine X and Y chromosomes. All individuals were scored for 15 microsatellite loci, with an average of 608 informative meioses per locus. The length of the bovine X chromosome genetic map was 118.7 cM (female only) and of the pseudoautosomal region was 13.0 cM (male only). The 15-marker framework map in Kosambi centimorgans is (BM6017-6.1-TGLA89-35.8-TEXAN13-3.4-TGLA128-1.3-BM2713-21.1-BM4604-2.4-BR215-12.9-TGLA68-10.0-BM4321-1.0-HEL14-4.9-TGLA15-2.3-INRA120-12.5-TGLA325-1.6-MAF45-3.2-INRA30), with an average interval of 7.91 cM. Clones containing pseudoautosomal or sex-linked microsatellites were isolated from a bovine bacterial artificial chromosome library and were physically mapped to bovine metaphase chromosomes by fluorescence in situ hybridization to orient the X and Y chromosome maps. BAC57, containing the pseudoautosomal microsatellite INRA30, mapped to the distal end of the long arm of the X chromosome at q42-ter and to the short arm of the Y chromosome at p13-ter. This confirms the published assignment of this region to Yp12-ter, but challenges the published assignment of Xp14-ter and thus reorients the X chromosome physical map. BAC204, containing the X-linked microsatellite BM4604, mapped to the middle of the long arm of the X chromosome at q26-q31. The position of the physically mapped to the middle of the long arm of the X chromosome at q26-q31. The position of the physically mapped markers indicates either a lack of microsatellite markers for a large (30 to 50 cM) region of the short arm of the X chromosome or heterogeneity of recombination along the X chromosome. 46 refs., 2 figs., 3 tabs.

  4. Three dimensional finite element analysis of anatomic distal radius Nitinol memory connector treating distal radius fracture

    Institute of Scientific and Technical Information of China (English)

    苏佳灿; 张春才; 禹宝庆; 许硕贵; 王家林; 纪方; 张雪松; 吴建国; 王保华; 薛召军; 丁祖泉

    2003-01-01

    Objective: To study the memory biomechanical character of anatomic distal radius Nitinol memory connector (DRMC) in treating distal radius fracture. Methods: Establishing three dimensional model and finite element analysis, we calculated the stress in and around the fracture faces when distal radius fracture was fixated with DRMC. Results: Axial holding stress produced by holding part of DRMC on distal radius was 14.66 MPa. The maximum stress of holding part was 40-70 MPa, the minimum stress was 3-7 MPa,and the stress of compression part was 20-40 MPa. Conclusion: The distribution of stress produced by DRMC around the fracture line is reasonable, and axial holding stress can help stabilize fracture during earlier period. The existence of longitudal compression and memory effect can transfer fixated disused section into developed section and enhance fracture healing.

  5. Altered chromosome 6 in immortal human fibroblasts.

    Science.gov (United States)

    Hubbard-Smith, K; Patsalis, P; Pardinas, J R; Jha, K K; Henderson, A S; Ozer, H L

    1992-05-01

    Human diploid fibroblasts have a limited life span in vitro, and spontaneous immortalization is an extremely rare event. We have used transformation of human diploid fibroblasts by an origin-defective simian virus 40 genome to develop series of genetically matched immortal cell lines to analyze immortalization. Comparison of a preimmortal transformant (SVtsA/HF-A) with its uncloned and cloned immortalized derivatives (AR5 and HAL) has failed to reveal any major alteration involving the simian virus 40 genome. Karyotypic analysis, however, demonstrated that all of the immortal cell lines in this series have alterations of chromosome 6 involving loss of the portion distal to 6q21. The karyotypic analysis was corroborated by DNA analyses. Southern analysis demonstrated that only one copy of three proto-oncogene loci (ros1, c-myb, and mas1) on 6q was retained in immortal cells. Polymerase chain reaction analysis of the microsatellite polymorphism at 6q22 (D6S87) showed loss of heterozygosity. In addition, elevated expression of c-myb (6q22-23) was observed. We hypothesize that the region at and/or distal to 6q21 plays a role in immortalization, consistent with the presence of a growth suppressor gene.

  6. Altered chromosome 6 in immortal human fibroblasts

    Energy Technology Data Exchange (ETDEWEB)

    Hubbard-Smith, K.; Pardinas, J.R.; Jha, K.K.; Ozer, H.L. (New Jersey Medical School, Newark, NJ (United States)); Patsalis, P.; Henderson, A.S. (City Univ. of New York, NY (United States))

    1992-05-01

    Human diploid fibroblasts have a limited life span in vitro, and spontaneous immortalization is an extremely rare event. We have used transformation of human diploid fibroblasts by an origin-defective simian virus 40 genome to develop series of genetically matched immortal cell lines to analyze immortalization. Comparison of a preimmortal transformant (SVtsA/HF-A) with its uncloned and cloned immortalized derivatives (AR5 and HAL) has failed to reveal any major alteration involving the simian virus 40 genome. Karyotypic analysis, however, demonstrated that all of the immortal cell lines in this series have alterations of chromosome 6 involving loss of the portion distal to 6q21. The karyotypic analysis was corroborated by DNA analyses. Southern analysis demonstrated that only one copy of three proto-oncogene loci (ros1, c-myb, and mas1) on 6q was retained in immortal cells. Polymerase chain reaction analysis of the microsatellite polymorphism at 6q22 (D6S87) showed loss of heterozygosity. In addition, elevated expression of c-myb (6q22-23) was observed. We hypothesize that the region at and/or distal to 6q21 plays a role in immortalization, consistent with the presence of a growth suppressor gene. 66 refs., 6 figs., 2 tabs.

  7. "Chromosome": a knowledge-based system for the chromosome classification.

    Science.gov (United States)

    Ramstein, G; Bernadet, M

    1993-01-01

    Chromosome, a knowledge-based analysis system has been designed for the classification of human chromosomes. Its aim is to perform an optimal classification by driving a tool box containing the procedures of image processing, pattern recognition and classification. This paper presents the general architecture of Chromosome, based on a multiagent system generator. The image processing tool box is described from the met aphasic enhancement to the fine classification. Emphasis is then put on the knowledge base intended for the chromosome recognition. The global classification process is also presented, showing how Chromosome proceeds to classify a given chromosome. Finally, we discuss further extensions of the system for the karyotype building.

  8. Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

    Directory of Open Access Journals (Sweden)

    Giordano Lucio

    2010-10-01

    Full Text Available Abstract Background Mosaic Chromosome 20 ring [r(20] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. The pathogenic mechanism underlying seizures disorders in r(20 syndrome is still unknown. We performed a detailed clinical and genetic study on 8 patients with r(20 chromosome, aimed at detecting the genetic mechanism underlying r(20 syndrome. Methods We submitted 8 subjects with a previous diagnosis of ring 20 chromosome mosaicism to a clinical re-evaluation, followed by cytogenetic, FISH, array-CGH and molecular analyses. The genetic study was also extended to their available parents. Results FISH and array-CGH experiments indicate that cryptic deletions on chromosome 20 are not the cause of the r(20 chromosome associated disease. Moreover, no evidence of chromosome 20 uniparental disomy was found. Analysis of FISH signals given by variant in size alphoid tandem repeats probes on the normal chromosome 20 and the r(20 chromosome in the mosaic carriers suggests that the r(20 chromosome is the same chromosome not circularized in the "normal" cell line. Conclusions Higher percentages of r(20 chromosome cells were observed to be related with precocious age at seizure onset and with resistance to antiepileptic drug treatment. Behavioural problems also seem to be associated with higher percentages of r(20 chromosome cells. Our results suggest that an epigenetic mechanism perturbing the expression of genes close to the telomeric regions, rather than deletion of genes located at the distal 20p and/or 20q regions, may underlie the manifestation of r(20 syndrome.

  9. Number of X-chromosome genes influences social behavior and vasopressin gene expression in mice.

    Science.gov (United States)

    Cox, Kimberly H; Quinnies, Kayla M; Eschendroeder, Alex; Didrick, Paula M; Eugster, Erica A; Rissman, Emilie F

    2015-01-01

    Sex differences in behavior are widespread and often caused by hormonal differences between the sexes. In addition to hormones, the composition and numbers of the sex chromosomes also affect a variety of sex differences. In humans, X-chromosome genes are implicated in neurobehavioral disorders (i.e. fragile-X, autism). To investigate the role of X-chromosome genes in social behavior, we used a mouse model that has atypical sex chromosome configurations resembling Turner (45, XO) and Klinefelter syndromes (47, XXY). We examined a number of behaviors in juvenile mice. Mice with only one copy of most X-chromosome genes, regardless of gonadal sex, were less social in dyadic interaction and social preference tasks. In the elevated plus maze, mice with one X-chromosome spent less time in the distal ends of the open arms as compared to mice with two copies of X-chromosome genes. Using qRTPCR, we noted that amygdala from female mice with one X-chromosome had higher expression levels of vasopressin (Avp) as compared to mice in the other groups. Finally, in plasma from girls with Turner syndrome we detected reduced vasopressin (AVP) concentrations as compared to control patients. These novel findings link sex chromosome genes with social behavior via concentrations of AVP in brain, adding to our understanding of sex differences in neurobehavioral disorders.

  10. INDICATIONS FOR DISTAL RADIOULNAR ARTHROPLASTY: REPORT ON THREE CLINICAL CASES

    Science.gov (United States)

    Santos, Cláudia; Pereira, Alexandre; Sousa, Marco; Trigeuiros, Miguel; Silva, César

    2015-01-01

    Distal radioulnar arthroplasty is an attractive solution for treating various pathological conditions of the distal radioulnar joint because it allows restoration of stability, load transmission and function. The main indications are: radioulnar impingement after partial or complete resection of the distal ulna; and degenerative, inflammatory or post-traumatic arthritis of the distal radioulnar joint. The authors present three clinical cases of distal radioulnar pathological conditions: two patients with post-traumatic sequelae and one case of distal radioulnar impingement after a Sauvé-Kapandji operation. The three cases were treated surgically with a metallic prosthesis to replace the distal ulna (First Choice - Ascension®). The first two were treated with a resurfacing prosthesis and the last one with a modular prosthesis. All of the patients had achieved pain relief and increased movement of the distal radioulnar joint after one year of postoperative follow-up. PMID:27047827

  11. Does computer use affect the incidence of distal arm pain?

    DEFF Research Database (Denmark)

    Mikkelsen, Sigurd; Lassen, Christina Funch; Vilstrup, Imogen;

    2012-01-01

    To study how objectively recorded mouse and keyboard activity affects distal arm pain among computer workers.......To study how objectively recorded mouse and keyboard activity affects distal arm pain among computer workers....

  12. Distal displacement of the maxilla and the upper first molar.

    Science.gov (United States)

    Baumrind, S; Molthen, R; West, E E; Miller, D M

    1979-06-01

    Data from a sample of 198 Class II cases treated with various appliances which deliver distally directed forces to the maxilla were examined to determine the frequency of absolute distal displacement of the upper first molar and of the maxilla. Analysis revealed that such distal displacement is possible and that it is, in fact, a frequent finding following treatment. Long-range stability of distal displacement was not assessed.

  13. Those amazing dinoflagellate chromosomes

    Institute of Scientific and Technical Information of China (English)

    PETER J RIZZO

    2003-01-01

    Dinoflagellates are a very large and diverse group of eukaryotic algae that play a major role in aquatic food webs of both fresh water and marine habitats. Moreover, the toxic members of this group pose a health threat in the form of red tides. Finally, dinoflagellates are of great evolutionary importance,because of their taxonomic position, and their unusual chromosome structure and composition. While the cytoplasm of dinoflagellates is typically eukaryotic, the nucleus is unique when compared to the nucleus of other eukaryotes. More specifically, while the chromosomes of all other eukaryotes contain histones,dinoflagellate chromosomes lack histones completely. There are no known exceptions to this observation: all dinoflagellates lack histones, and all other eukaryotes contain histones. Nevertheless, dinoflagellates remain a relatively unstudied group of eukaryotes.

  14. Chromosome numbers in Bromeliaceae

    Directory of Open Access Journals (Sweden)

    Cotias-de-Oliveira Ana Lúcia Pires

    2000-01-01

    Full Text Available The present study reports chromosome numbers of 17 species of Bromeliaceae, belonging to the genera Encholirium, Bromelia, Orthophytum, Hohenbergia, Billbergia, Neoglaziovia, Aechmea, Cryptanthus and Ananas. Most species present 2n = 50, however, Bromelia laciniosa, Orthophytum burle-marxii and O. maracasense are polyploids with 2n = 150, 2n = 100 and 2n = 150, respectively, while for Cryptanthus bahianus, 2n = 34 + 1-4B. B chromosomes were observed in Bromelia plumieri and Hohenbergia aff. utriculosa. The chromosome number of all species was determined for the first time, except for Billbergia chlorosticta and Cryptanthus bahianus. Our data supports the hypothesis of a basic number of x = 25 for the Bromeliaceae family and decreasing aneuploidy in the genus Cryptanthus.

  15. [Fracture endoprosthesis of distal humerus fractures].

    Science.gov (United States)

    Müller, L P; Wegmann, K; Burkhart, K J

    2013-08-01

    The treatment of choice for fractures of the distal humerus is double plate osteosynthesis. Due to anatomical preshaped angle stable plates the primary stability and management of soft tissues has been improved. However, osteoporotic comminuted fractures in the elderly are often not amenable to stable osteosynthesis and total elbow arthroplasty has been established as an alternative therapy. Although complication rates have been reduced, complications of total elbow arthroplasty are still much more frequent than in total hip replacement. Furthermore, patients are advised not to exceed a weight bearing of 5 kg. Therefore, the indications for elbow arthroplasty must be evaluated very strictly and should be reserved for comminuted distal humeral fractures in the elderly with poor bone quality that are not amenable to stable osteosynthesis or for simple fractures in cases of preexisting symptomatic osteoarthritis. This article introduces and discusses modern concepts of elbow arthroplasty, such as modular convertible prosthesis systems, hemiarthroplasty and radial head replacement in total elbow arthroplasty.

  16. [Progressive external ophthalmoplegia and distal myopathy].

    Science.gov (United States)

    Damian, C

    1993-01-01

    A patient, 58 years old, presents progressive blepharoptosis, in both eyes and external ophthalmoplegia. The general somatic examination, shows, at the level of the higher limbs, distal myopathy with muscular hypotony and articular deformities fibrosis and tendinous retraction. On examining the eye bottom we found colloid degeneration in the muscle region. Within the same family a ten-year-old nephew presents congenital ptosis. The muscular biopsy from the levator palpebrae shows muscular degenerative lesions with the reduction of nuclei and the proliferation of conjunctive tissue. It is shown that progressive external ophthalmoplegia must be interpreted as an ocular myopathy. The association with the distal myopathy at the level of the higher limbs, in the presented observation, upholds this pathogeny.

  17. Gonadoblastoma and Y-chromosome fluorescence.

    Science.gov (United States)

    Lukusa, T; Fryns, J P; van den Berghe, H

    1986-04-01

    In this report we summarize our experience in 4 patients with 45,X/46,XY, one patient with 45,X/47,XYY mosaicism, and one patient with 46,XY karyotype and ambiguous external genitalia. In the 3 patients with a fluorescent Y-chromosome, the development of one or two gonadoblastomas was found, independent of the age of the patients at the time of examination. In the 3 patients with 45,X/46,XYnf mosaicism no gonadoblastoma was detected. This finding prompted us to review the data on patients reported with 45,X/46,XYnf mosaicism. Up to now, no patient with well documented 45,X/46,XYnf mosaicism and convincing evidence of development of gonadoblastoma has been reported. These data seem to confirm that alterations of the characteristic distal fluorescence of Yq may protect the dysgenetic gonad against tumoral degeneration in patients with 45,X/46,XY mosaicism. Possible mechanisms responsible for these changes in the oncogenic potential of Yq in relation with the Y chromosome fluorescence are discussed.

  18. Distal renal tubular acidosis with hereditary spherocytosis.

    Science.gov (United States)

    Sinha, Rajiv; Agarwal, Indira; Bawazir, Waleed M; Bruce, Lesley J

    2013-07-01

    Hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA), although distinct entities, share the same protein i.e. the anion exchanger1 (AE1) protein. Despite this, their coexistence has been rarely reported. We hereby describe the largest family to date with co-existence of dRTA and HS and discuss the molecular basis for the co-inheritance of these conditions.

  19. Distal biceps tendon injuries: diagnosis and management.

    Science.gov (United States)

    Ramsey, M L

    1999-01-01

    Rupture of the distal biceps tendon occurs most commonly in the dominant extremity of men between 40 and 60 years of age when an unexpected extension force is applied to the flexed arm. Although previously thought to be an uncommon injury, distal biceps tendon ruptures are being reported with increasing frequency. The rupture typically occurs at the tendon insertion into the radial tuberosity in an area of preexisting tendon degeneration. The diagnosis is made on the basis of a history of a painful, tearing sensation in the antecubital region. Physical examination demonstrates a palpable and visible deformity of the distal biceps muscle belly with weakness in flexion and supination. The ability to palpate the tendon in the antecubital fossa may indicate partial tearing of the biceps tendon. Plain radiographs may show hypertrophic bone formation at the radial tuberosity. Magnetic resonance imaging is generally not required to diagnose a complete rupture but may be useful in the case of a partial rupture. Early surgical reattachment to the radial tuberosity is recommended for optimal results. A modified two-incision technique is the most widely used method of repair, but anterior single-incision techniques may be equally effective provided the radial nerve is protected. The patient with a chronic rupture may benefit from surgical reattachment, but proximal retraction and scarring of the muscle belly can make tendon mobilization difficult, and inadequate length of the distal biceps tendon may necessitate tendon augmentation. Postoperative rehabilitation must emphasize protected return of motion for the first 8 weeks after repair. Formal strengthening may begin as early as 8 weeks, with a return to unrestricted activities, including lifting, by 5 months.

  20. [Laparoscopic distal resection of the pancreas].

    Science.gov (United States)

    Gürlich, R; Sixta, B; Oliverius, M; Kment, M; Rusina, R; Spicák, J; Sváb, J

    2005-09-01

    During the last two years, reports on laparoscopic procedures of the pancreas have been on increase. Laparoscopic resection of the pancreatic cauda is indicated, primarily, for benign cystic lesions of the cauda of the pancreas and for neuroendocrine tumors of the pancreas (mainly insulinomas). We have not recorded any report on the above procedure in the Czech literature. Therefore, in our case review, we have described laparoscopic distal resection of the pancreas with splenectomy for a pseudopapillary tumor of the pancreas.

  1. Periosteal osteoid osteoma of the distal femur

    Directory of Open Access Journals (Sweden)

    Mohammed Fahd Amar

    2010-07-01

    Full Text Available Periosteal osteoid osteoma is extremely rare. The diagnosis is not always clear. We report a case of periosteal osteoid osteoma arising from the posterior surface of the right distal femur in a 21-year-old woman. After careful evaluation and excisional biopsy, histological examination confirmed the diagnosis of osteoid osteoma, showing the nidus, surrounding osteosclerosis, and catarrhal synovitis. The lesion was treated successfully with excision of the nidus.

  2. No increase in female recombination frequency in the distal part of the human pseudoautosomal region

    Energy Technology Data Exchange (ETDEWEB)

    Vergnaud, G. [Institut de Biologie, Nantes (France)

    1994-12-01

    In human, the genetic map is larger in female than in male. However, for unknown reasons, a reversed situation is observed toward at least some telomeres, where recombination in males can be 10-fold that observed in females. Henke et al. report that male and female recombination rates are equal in the very distal part of the human pseudoautosomal region (PAR), thus suggesting that the telomeric excess of male recombination, when observed, may not exist right to the tip of chromosomes. Such an observation is of importance for the genetic mapping of chromosome ends, for both practical and biological reasons. Thus, I have examined in detail our own data for this region and failed to confirm the previous report. I will explain here the origin of the discrepancy, in the CEPH family K1333 presented in detail in the Henke et al. report, which accounts for half (3/6) of the maternal recombination events detected in the most distal interval of the PAR. 9 refs., 1 fig.

  3. Distal Adding On in Lenke 1A Scoliosis

    DEFF Research Database (Denmark)

    Wang, Yu; Bünger, Cody Eric; Zhang, Yanqun;

    2013-01-01

    to determine the onset of distal adding-on in Lenke 1A scoliosis. Such questions as: "Which radiographical parameters should be used for measuring the extent of distal adding-on?" and "What criteria should be applied in determining the onset of distal adding-on?" need to be answered. METHODS: We reviewed all...

  4. Distal symmetrical polyneuropathy: definition for clinical research.

    Science.gov (United States)

    England, J D; Gronseth, G S; Franklin, G; Miller, R G; Asbury, A K; Carter, G T; Cohen, J A; Fisher, M A; Howard, J F; Kinsella, L J; Latov, N; Lewis, R A; Low, P A; Sumner, A J

    2005-01-01

    The objective of this report was to develop a case definition of "distal symmetrical polyneuropathy" to standardize and facilitate clinical research and epidemiological studies. A formalized consensus process was employed to reach agreement after a systematic review and classification of evidence from the literature. The literature indicates that symptoms alone have relatively poor diagnostic accuracy in predicting the presence of polyneuropathy; signs are better predictors of polyneuropathy than symptoms; and single abnormalities on examination are less sensitive than multiple abnormalities in predicting the presence of polyneuropathy. The combination of neuropathic symptoms, signs, and electrodiagnostic findings provides the most accurate diagnosis of distal symmetrical polyneuropathy. A set of case definitions was rank ordered by likelihood of disease. The highest likelihood of polyneuropathy (useful for clinical trials) occurs with a combination of multiple symptoms, multiple signs, and abnormal electrodiagnostic studies. A modest likelihood of polyneuropathy (useful for field or epidemiological studies) occurs with a combination of multiple symptoms and multiple signs when the results of electrodiagnostic studies are not available. A lower likelihood of polyneuropathy occurs when electrodiagnostic studies and signs are discordant. For research purposes, the best approach for defining distal symmetrical polyneuropathy is a set of case definitions rank ordered by estimated likelihood of disease. The inclusion of this formalized case definition in clinical and epidemiological research studies will ensure greater consistency of case selection.

  5. Novel topical therapies for distal colitis

    Institute of Scientific and Technical Information of China (English)

    Ian; Craig; Lawrance

    2010-01-01

    Distal colitis(DC) can be effectively treated with topical 5ASA agents.Suppositories target the rectum while enemas can reliably reach the splenic flexure.Used in combination with oral 5ASAs,the control of the inflammation is even more effective.Unfortunately,resistant DC does occur and can be extremely challenging to manage.In these patients,the use of steroids,immunosuppressants and the anti-tumor necrosis factor α agents are often required.These,however,can be associated with systemic side effects and are not always effective.The investigation of new topical therapeutic agents is thus required as they are rarely associated with significant blood drug levels and side effects are infrequent.Some of the agents that have been proposed for use in resistant distal colitis include butyrate,cyclosporine and nicotine enemas as well as tacrolimus suppositories and tacrolimus,ecabet sodium,arsenic,lidocaine,rebamipide and Ridogrel enemas.Some of these agents have demonstrated impressive results but the majority of the agents have only been assessed in small open-labelled patient cohorts.Further work is thus required with the investigation of promising agents in the context of randomized double-blinded placebo controlled trials.This review aims to highlight those potentially effective therapies in the management of resistant distal colitis and to promote interest in furthering their investigation.

  6. Miastenia grave distal: relato de caso

    Directory of Open Access Journals (Sweden)

    Scola Rosana Herminia

    2003-01-01

    Full Text Available Relatamos o caso de uma mulher de 30 anos com quadro de fraqueza muscular nos membros inferiores com predomínio distal com início há 7 anos. Na evolução apresentou fraqueza muscular nos membros superiores. O exame físico mostrava nervos cranianos sem alterações, hipotrofia bilateral de quadriceps e interósseos dos pés, redução da força muscular mais intensa em tibiais anteriores e interósseos dorsais dos pés e reflexos tendinosos globalmente hipoativos. Foi realizado teste de estimulação repetitiva que mostrou decremento maior que 10% no nervo fibular e ulnar. A dosagem de anticorpos anti-receptor de acetilcolina foi positiva. Tomografia computadorizada de tórax foi normal. Dosagem de hormônios tireoidianos mostrou evidências laboratoriais de hipertireoidismo, porém sem manifestações clínicas. Foi iniciado tratamento com piridostigmina havendo melhora importante do quadro clínico. A fraqueza distal é um sintoma inicial raro na miastenia grave (MG. Contudo, a MG deve entrar no diagnóstico diferencial de doenças que cursam com fraqueza muscular distal de membros superiores ou inferiores.

  7. Distal tendinosis of the tibialis anterior tendon.

    Science.gov (United States)

    Beischer, Andrew D; Beamond, Ben M; Jowett, Andrew J L; O'Sullivan, Richard

    2009-11-01

    Disorders of the tibialis anterior (TA) tendon have infrequently been reported but spontaneous rupture of this tendon is well recognized. The clinical presentation of tendinosis without rupture of the distal TA has not previously been reported and is the basis of this paper. A study of 29 patients diagnosed with distal TA tendinosis was undertaken. Data collected included, patient demographics, weight, height, pain profile and examination findings. All patients underwent MRI of the symptomatic foot. Operative findings of those patients undergoing surgery for this condition were collected. Twenty-nine patients (32 feet) were included in the study group. Their mean age was 62 years and 27 patients were female. Twenty-one patients were overweight. The usual presenting symptom was burning medial midfoot pain that was often reported to be worst at night. Swelling over the TA tendon was frequently observed. On MRI the TA was thickened in all patients. Longitudinal split tears were observed in 19 feet. Chondral thinning and/or osteophyte formation at the first tarsometatarsal or medial naviculocuneiform joints was observed in 11 feet. Eleven feet underwent surgery. Universally the TA tendon was macroscopically thickened and had lost its normal fibrillary appearance. Longitudinal split tears were observed in eight tendons. Pathology was typical of a degenerative tendinosis. Distal TA tendinosis is a condition that seems to predominantly affect overweight elderly women. It often presents with nocturnal burning medial midfoot pain.

  8. DISTAL TRICEPS AVULSION: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ramkumar Reddy

    2015-05-01

    Full Text Available Triceps rupture is an uncommon injury. Fracture of olecranon or a dislocation / fracture is most often common injury for similar mechanism of fall. It is commonly associated with anabolic steroid use, weight lifting, and direct laceration. Risk factors include local steroid injection, olecranon bursitis, and hyperparathyroidism. Distal triceps rupture is usually caused by a fall on an outstretched hand. Eccentric loading of a contracting triceps has been implicated. Initial diagnosis may be difficult because a palpable defect is not always present. Pain and swelling may limit the ability to evaluate strength and elbow range of motion. Although plain radiographs are helpful in ruling out other elbow pathology, MRI is used to confirm the diagnosis, classify the injury, and plan management. Incomplete tears with active elbow extension against resistance are managed non - surgically. Surgical repair is indicated in active persons with complete tears and for incomplete tears with concomitant loss of strength. Good to excellent results have been reported with surgical repair in triceps, even for chronic tears. BACKGROUND: Distal triceps tendon avulsions occur very infrequently, and the diagnosis is often missed when the injury is acute. The literature provides little guidance regarding treatment or the outcome of these injuries. The goal of this report was to report our experience with the diagnosis, timing and technique of surgical treatment, and outcome of treatment of distal triceps tendon rupture.

  9. Management and treatment of distal ulcerative colitis

    Directory of Open Access Journals (Sweden)

    Andrea Calafiore

    2013-12-01

    Full Text Available Ulcerative colitis (UC is a chronic inflammatory condition that is confined to the colonic mucosa. Its main symptoms include diarrhea, rectal bleeding and abdominal pain. Approximately two-thirds of UC patients have disease confined distal to the splenic flexure, which can be treated effectively with topical therapy. This means the active drug can be delivered directly to the site of inflammation, limiting the systemic absorption and potential side effects. Topical treatment with aminosalicylates is the most effective approach in the treatment of these forms, provided that the formulation reaches the upper margin of the disease. Given this, the suppository formulation is the treatment of choice for proctitis and distal sigmoiditis. Thanks to their proximal spread, enemas, foams and gels represent the treatment of choice for proctosigmoiditis and for distal ulcerative colitis. Oral aminosalicylates are less effective than topical therapies in patients with active disease, while the combination of topical and oral treatment is more effective in patients refractory to topical or oral mono-therapy. Topically administered aminosalicylates play an important role in the maintenance of remission, but the long-term adhesion to therapy is poor. For this reason, the oral formulation is the first-line therapy in the maintenance of remission. Refractory patients can be treated with topical steroids or systemic steroids and TNF-alpha inhibitors in severe forms.

  10. Interstitial and terminal deletion of chromosome Y in a male individual with cryptozoospermia.

    Science.gov (United States)

    Duell, T; Mathews, S; Wunderlich, B; Mittermüller, J; Schmetzer, H

    1998-04-01

    A constitutional de-novo deletion of the long arm of the Y chromosome was detected by standard cytogenetic analysis in a 38-year old male who, except for small testes and cryptozoospermia, was phenotypically normal. The deletion was further characterized by fluorescent in-situ hybridization (FISH) and digital image analysis using contigs of overlapping yeast artificial chromosome (YAC) clones, spanning almost the entire Y chromosome. These results showed that the deletion involved a large interstitial segment on the proximal long arm of the Y chromosome (Yq11.1-->Yq11.22) as well as a more distal portion of the Y chromosome, including the entire heterochromatic region (Yq11.23-->qter). The breakpoints as determined by the YAC probes were defined within the published Vergnaud intervals so that region 6B and 6C was mostly retained. However, the AZFc region harbouring the DAZ locus on distal subinterval 6F was lost in the deletion, making the absence of this region the most probable location for the patient's infertility. The data underline the usefulness of FISH as an alternative technique to conventional banding for the refined detection of chromosome Y deletions/rearrangements.

  11. A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines

    Directory of Open Access Journals (Sweden)

    Moskowitz Ivan

    2009-03-01

    Full Text Available Abstract Background ENU-mutagenesis is a powerful technique to identify genes regulating mammalian development. To functionally annotate the distal region of mouse chromosome 4, we performed an ENU-mutagenesis screen using a balancer chromosome targeted to this region of the genome. Results We isolated 11 lethal lines that map to the region of chromosome 4 between D4Mit117 and D4Mit281. These lines form 10 complementation groups. The majority of lines die during embryonic development between E5.5 and E12.5 and display defects in gastrulation, cardiac development, and craniofacial development. One line displayed postnatal lethality and neurological defects, including ataxia and seizures. Conclusion These eleven mutants allow us to query gene function within the distal region of mouse chromosome 4 and demonstrate that new mouse models of mammalian developmental defects can easily and quickly be generated and mapped with the use of ENU-mutagenesis in combination with balancer chromosomes. The low number of mutations isolated in this screen compared with other balancer chromosome screens indicates that the functions of genes in different regions of the genome vary widely.

  12. Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases.

    Science.gov (United States)

    Zhang, H Z; Xu, F; Seashore, M; Li, P

    2012-01-01

    A ring chromosome replacing a normal chromosome could involve variable structural rearrangements and mitotic instability. However, most previously reported cases lacked further genomic characterization. High-resolution oligonucleotide array comparative genomic hybridization with single-nucleotide polymorphism typing (aCGH+SNP) was used to study 2 unrelated cases with a ring chromosome 21. Case 1 had severe myopia, hypotonia, joint hypermobility, speech delay, and dysmorphic features. aCGH detected a 1.275-Mb duplication of 21q22.12-q22.13 and a 6.731-Mb distal deletion at 21q22.2. Case 2 showed severe growth and developmental retardations, intractable seizures, and dysmorphic features. aCGH revealed a contiguous pattern of a 3.612- Mb deletion of 21q22.12-q22.2, a 4.568-Mb duplication of 21q22.2-q22.3, and a 2.243-Mb distal deletion at 21q22.3. Mitotic instability was noted in 13, 30, and 76% of in vitro cultured metaphase cells, interphase cells, and leukocyte DNA, respectively. The different phenotypes of these 2 cases are likely associated with the unique genomic structure and distinct mitotic behavior of their ring chromosome 21. These 2 cases represent a subtype of ring chromosome 21 probably involving somatic dicentric ring breakage and reunion. A cytogenomic approach is proposed for characterizing the genomic structure and mitotic instability of ring chromosome abnormalities.

  13. A sugar beet (Beta vulgaris L.) reference FISH karyotype for chromosome and chromosome-arm identification, integration of genetic linkage groups and analysis of major repeat family distribution.

    Science.gov (United States)

    Paesold, Susanne; Borchardt, Dietrich; Schmidt, Thomas; Dechyeva, Daryna

    2012-11-01

    We developed a reference karyotype for B. vulgaris which is applicable to all beet cultivars and provides a consistent numbering of chromosomes and genetic linkage groups. Linkage groups of sugar beet were assigned to physical chromosome arms by FISH (fluorescent in situ hybridization) using a set of 18 genetically anchored BAC (bacterial artificial chromosome) markers. Genetic maps of sugar beet were correlated to chromosome arms, and North-South orientation of linkage groups was established. The FISH karyotype provides a technical platform for genome studies and can be applied for numbering and identification of chromosomes in related wild beet species. The discrimination of all nine chromosomes by BAC probes enabled the study of chromosome-specific distribution of the major repetitive components of sugar beet genome comprising pericentromeric, intercalary and subtelomeric satellites and 18S-5.8S-25S and 5S rRNA gene arrays. We developed a multicolor FISH procedure allowing the identification of all nine sugar beet chromosome pairs in a single hybridization using a pool of satellite DNA probes. Fiber-FISH was applied to analyse five chromosome arms in which the furthermost genetic marker of the linkage group was mapped adjacently to terminal repetitive sequences on pachytene chromosomes. Only on two arms telomere arrays and the markers are physically linked, hence these linkage groups can be considered as terminally closed making the further identification of distal informative markers difficult. The results support genetic mapping by marker localization, the anchoring of contigs and scaffolds for the annotation of the sugar beet genome sequence and the analysis of the chromosomal distribution patterns of major families of repetitive DNA.

  14. Chromosomal rearrangements in cattle and pigs revealed by chromosome microdissection and chromosome painting

    Directory of Open Access Journals (Sweden)

    Yerle Martine

    2003-11-01

    Full Text Available Abstract A pericentric inversion of chromosome 4 in a boar, as well as a case of (2q-;5p+ translocation mosaicism in a bull were analysed by chromosome painting using probes generated by conventional microdissection. For the porcine inversion, probes specific for p arms and q arms were produced and hybridised simultaneously on metaphases of a heterozygote carrier. In the case of the bovine translocation, two whole chromosome probes (chromosome 5, and derived chromosome 5 were elaborated and hybridised independently on chromosomal preparations of the bull who was a carrier of the mosaic translocation. The impossibility of differentiating chromosomes 2 and der(2 from other chromosomes of the metaphases did not allow the production of painting probes for these chromosomes. For all experiments, the quality of painting was comparable to that usually observed with probes obtained from flow-sorted chromosomes. The results obtained allowed confirmation of the interpretations proposed with G-banding karyotype analyses. In the bovine case, however, the reciprocity of the translocation could not be proven. The results presented in this paper show the usefulness of the microdissection technique for characterising chromosomal rearrangements in species for which commercial probes are not available. They also confirmed that the main limiting factor of the technique is the quality of the chromosomal preparations, which does not allow the identification of target chromosomes or chromosome fragments in all cases.

  15. Chromosomal rearrangement interferes with meiotic X chromosome inactivation

    OpenAIRE

    Homolka, David; Ivanek, Robert; Capkova, Jana; Jansa, Petr; Forejt, Jiri

    2007-01-01

    Heterozygosity for certain mouse and human chromosomal rearrangements is characterized by the incomplete meiotic synapsis of rearranged chromosomes, by their colocalization with the XY body in primary spermatocytes, and by male-limited sterility. Previously, we argued that such X–autosomal associations could interfere with meiotic sex chromosome inactivation. Recently, supporting evidence has reported modifications of histones in rearranged chromosomes by a process called the meiotic silencin...

  16. Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8.

    Science.gov (United States)

    Lux, S E; Tse, W T; Menninger, J C; John, K M; Harris, P; Shalev, O; Chilcote, R R; Marchesi, S L; Watkins, P C; Bennett, V

    1990-06-21

    Hereditary spherocytosis (HS) is one of the most common hereditary haemolytic anaemias. HS red cells from both autosound dominant and recessive variants are spectrin-deficient, which correlates with the severity of the disease. Some patients with recessive HS have a mutation in the spectrin alpha-2 domain (S.L.M. et al., unpublished observations), and a few dominant HS patients have an unstable beta-spectrin that is easily oxidized, which damages the protein 4.1 binding site and weakens spectrin-actin interactions. In most patients, however, the cause of spectrin deficiency is unknown. The alpha- and beta-spectrin loci are on chromosomes 1 and 14 respectively. The only other genetic locus for HS is SPH2, on the short arm of chromosome 8 (8p11). This does not correspond to any of the known loci of genes for red cell membrane proteins including protein 4.1 (1p36.2-p34), the anion exchange protein (AE1, band 3; 17q21-qter), glycophorin C (2q14-q21), and beta-actin (7pter-q22). Human erythrocyte ankyrin, which links beta-spectrin to the anion exchange protein, has recently been cloned. We now show that the ankyrin gene maps to chromosome 8p11.2, and that one copy is missing from DNA of two unrelated children with severe HS and heterozygous deletions of chromosome 8 (del(8)(p11-p21.1)). Affected red cells are also ankyrin-deficient. The data suggest that defects or deficiency or ankyrin are responsible for HS at the SPH2 locus.

  17. Isolation of 24 novel cDNA fragments from microdis—sected human chromosome band

    Institute of Scientific and Technical Information of China (English)

    ZHANGMIN; LONGYU; 等

    1998-01-01

    The strategy of isolating the band0specific expression fragments from a probe pool generated by human chromosome microdissection was reported.A chromosome 14q 24.3 band-specific single copy DNA pool was constructed based on this probe pool.Using total DNA of the pool as probe to hybridize the human marrow cDNA library,68 primary positive clones were selected from 5×105 cDNA clones.Among these primary clones,32 secondary clones were obtained after second-round screening and designed as cFD14-1-32.Finally,24 band-specific expression fragments were identified from these 32 positive clones by DNA hybridization.Those band-specific clones can hybridize to both 14q24.3 DNA and human genomic DNA but cann't hybridize to 17q11-12 DNA,Partial sequences of 13 fragments of them were sequenced and idenfified as novel cDNA sequences,and these sequences were proved to have some homology with known genes in NCBI database.Analysis of expression spectrum of cFD 14-1 suggested that the cDNA fragments thus obtained should be used to isolate the genes can not been cloned in 14q24.3 region.

  18. Cloning chromosome specific genes by reciprocal probing of arrayed cDNA and cosmid libraries

    Energy Technology Data Exchange (ETDEWEB)

    Yazdani, A.; Lee, C.C.; Wehnert, M. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    A human gene map will greatly facilitate the association of genes to single locus diseases and provide candidates for genes involved in complex genetic traits. Given the estimated 100,000 human genes an integrated strategy with a high throughput approach for isolation and mapping of expressed sequences is needed to create such a gene map. We have developed an approach that allows high throughput gene isolation and mapping using arrayed genomic and cDNA lambda libraries. Reciprocal probing of the arrayed genomic and cDNA cosmic libraries can rapidly establish cDNA-cosmid associations. Fluorescence in situ hybridization (FISH) chromosomal mapping and expressed sequence tag/sequence tag site (EST/STS) primers generated from DNA sequence of PCR-based mapping using somatic hybrid cell line mapping panels were utilized to characterize further the hybridization-based cDNA cosmid association. We have applied this approach to chromosome 17 using a placental cDNA library and have identified a total of 30 genes out of which 11 are novel. Furthermore seven cDNAs were mapped to 17q21 in this study, providing novel candidate genes for BRCA-1 gene for early onset breast cancer. The results of our study clearly show that an integration of an expression map into physical and genetic maps can provide candidate genes for human diseases that have been mapped to specific regions. This approach combined with the current physical mapping efforts could efficiently provide a detailed human gene map.

  19. An innovative technique to distalize maxillary molar using microimplant supported rapid molar distalizer

    Directory of Open Access Journals (Sweden)

    Meenu Goel

    2013-01-01

    Full Text Available Introduction: In recent years, enhancements in implants have made their use possible as a mode of absolute anchorage in orthodontic patients. In this paper, the authors have introduced an innovative technique to unilaterally distalize the upper left 1 st molar to obtain an ideal Class I molar relationship from a Class II existing molar relationship with an indigenous designed distalizer. Clinical Innovation: For effective unilateral diatalization of molar, a novel cantilever sliding jig assembly was utilized with coil spring supported by a buccally placed single micro implant. The results showed 3 mm of bodily distalization with 1 mm of intrusion and 2° of distal tipping of upper left 1 st molar in 1.5 months. Discussion: This appliance is relatively easy to insert, well-tolerated, and requires minimal patient cooperation compared to other present techniques of molar distalization. Moreover, it is particularly useful in cases that are Class II on one side and Class I on the other, with a minor midline discrepancy and nominal overjet. Patient acceptance level was reported to be within patients physiological and comfort limits.

  20. Chromosomes, cancer and radiosensitivity

    Energy Technology Data Exchange (ETDEWEB)

    Samouhos, E.

    1983-08-01

    Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available.

  1. Ring chromosome 13

    DEFF Research Database (Denmark)

    Brandt, C A; Hertz, Jens Michael; Petersen, M B;

    1992-01-01

    A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation...

  2. The Y Chromosome

    Science.gov (United States)

    Offner, Susan

    2010-01-01

    The Y chromosome is of great interest to students and can be used to teach about many important biological concepts in addition to sex determination. This paper discusses mutation, recombination, mammalian sex determination, sex determination in general, and the evolution of sex determination in mammals. It includes a student activity that…

  3. Why Chromosome Palindromes?

    Directory of Open Access Journals (Sweden)

    Esther Betrán

    2012-01-01

    Full Text Available We look at sex-limited chromosome (Y or W evolution with particular emphasis on the importance of palindromes. Y chromosome palindromes consist of inverted duplicates that allow for local recombination in an otherwise nonrecombining chromosome. Since palindromes enable intrachromosomal gene conversion that can help eliminate deleterious mutations, they are often highlighted as mechanisms to protect against Y degeneration. However, the adaptive significance of recombination resides in its ability to decouple the evolutionary fates of linked mutations, leading to both a decrease in degeneration rate and an increase in adaptation rate. Our paper emphasizes the latter, that palindromes may exist to accelerate adaptation by increasing the potential targets and fixation rates of incoming beneficial mutations. This hypothesis helps reconcile two enigmatic features of the “palindromes as protectors” view: (1 genes that are not located in palindromes have been retained under purifying selection for tens of millions of years, and (2 under models that only consider deleterious mutations, gene conversion benefits duplicate gene maintenance but not initial fixation. We conclude by looking at ways to test the hypothesis that palindromes enhance the rate of adaptive evolution of Y-linked genes and whether this effect can be extended to palindromes on other chromosomes.

  4. The Y Chromosome

    Science.gov (United States)

    Offner, Susan

    2010-01-01

    The Y chromosome is of great interest to students and can be used to teach about many important biological concepts in addition to sex determination. This paper discusses mutation, recombination, mammalian sex determination, sex determination in general, and the evolution of sex determination in mammals. It includes a student activity that…

  5. Distal renal tubular acidosis in recurrent renal stone formers

    DEFF Research Database (Denmark)

    Osther, P J; Hansen, A B; Røhl, H F

    1989-01-01

    (1.1%) had complete distal renal tubular acidosis and 14 (15.5%) incomplete distal renal tubular acidosis. Our results confirm that distal renal tubular acidification defects are associated with a more severe form of stone disease and make distal renal tubular acidosis one of the most frequent...... metabolic disturbances in renal stone formers. Distal renal tubular acidosis (dRTA) was relatively more common in female stone formers and most often found in patients with bilateral stone disease (36%). Since prophylactic treatment in renal stone formers with renal acidification defects is available...

  6. Chromosome Variations And Human Behavior

    Science.gov (United States)

    Soudek, D.

    1974-01-01

    Article focused on the science of cytogenetics, which studied the transmission of the units of heredity called chromosomes, and considered the advantage of proper diagnosis of genetic diseases, treated on the chromosomal level. (Author/RK)

  7. Segregation of an X ring chromosome in two generations.

    Science.gov (United States)

    Dallapiccola, B; Bruni, L; Boscherini, B; Pasquino, A M; Chessa, L; Vignetti, P

    1980-01-01

    A 45,X/46,X,r(X) mosaicism was found in a mother and daughter. Characterisation of the ring by banding studies showed that breakpoints had occurred at bands Xp13 and Xq27. It is confirmed that women heterozygotes for partial deficiencies of the short arm of an X chromosome are fertile. Although the mother developed secondary amenorrhoea at the age of 29, it is suggested that fertility per se may not be affected by deficiencies of the distal part of Xq. Images PMID:7205906

  8. [Dicentric Y chromosome].

    Science.gov (United States)

    Abdelmoula, N Bouayed; Amouri, A

    2005-01-01

    Dicentric Y chromosomes are the most common Y structural abnormalities and their influence on gonadal and somatic development is extremely variable. Here, we report the third comprehensive review of the literature concerning dicentric Y chromosomes reported since 1994. We find 78 new cases for which molecular studies (PCR or FISH) have been widely applied to investigate SRY (68% of cases), GBY, ZFY, RFS4Y, GCY and different genes at AZF region. For dic(Yq), all cases (n = 20) were mosaic for 45,X and 4 of them were also mosaic for a 46,XY cell line. When breakpoints were available (15/20 cases), they were in Yp11. 50% of cases were phenotypic female and 20% phenotypic male while 20% of cases were reported with gonadal dysgenesis. Gonadal histology was defined in 8 cases but only in one case, gonadal tissu was genetically investigated because of gonadoblastoma. For dic(Yp) (n = 55), mosaicism concerned only 45,X cell line and was found in 50 cases while the remainder five cases were homogeneous. When breakpoints were available, it was at Yq11 in 50 cases and at Yq12 in two cases. 54% of cases were phenotypic female, 26% were phenotypic male and 18% were associated with genitalia ambiguous. SRY was analyzed in 33 cases, sequenced in 9 cases and was muted in only one case. Gonads were histologically explored in 34 cases and genetically investigated in 8 cases. Gonadoblastoma was found in only two cases. Through this review, it seems that phenotype-genotype correlations are still not possible and that homogeneous studies of dic(Y) in more patients using molecular tools for structural characterization of the rearranged Y chromosome and assessment of mosaicism in many organs are necessary to clarify the basis of the phenotypic heterogeneity of dicentric Y chromosomes and then to help phenotypic prediction of such chromosome rearrangement.

  9. Telomere dysfunction and chromosome instability

    Energy Technology Data Exchange (ETDEWEB)

    Murnane, John P., E-mail: jmurnane@radonc.ucsf.edu [Department of Radiation Oncology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94143-1331 (United States)

    2012-02-01

    The ends of chromosomes are composed of a short repeat sequence and associated proteins that together form a cap, called a telomere, that keeps the ends from appearing as double-strand breaks (DSBs) and prevents chromosome fusion. The loss of telomeric repeat sequences or deficiencies in telomeric proteins can result in chromosome fusion and lead to chromosome instability. The similarity between chromosome rearrangements resulting from telomere loss and those found in cancer cells implicates telomere loss as an important mechanism for the chromosome instability contributing to human cancer. Telomere loss in cancer cells can occur through gradual shortening due to insufficient telomerase, the protein that maintains telomeres. However, cancer cells often have a high rate of spontaneous telomere loss despite the expression of telomerase, which has been proposed to result from a combination of oncogene-mediated replication stress and a deficiency in DSB repair in telomeric regions. Chromosome fusion in mammalian cells primarily involves nonhomologous end joining (NHEJ), which is the major form of DSB repair. Chromosome fusion initiates chromosome instability involving breakage-fusion-bridge (B/F/B) cycles, in which dicentric chromosomes form bridges and break as the cell attempts to divide, repeating the process in subsequent cell cycles. Fusion between sister chromatids results in large inverted repeats on the end of the chromosome, which amplify further following additional B/F/B cycles. B/F/B cycles continue until the chromosome acquires a new telomere, most often by translocation of the end of another chromosome. The instability is not confined to a chromosome that loses its telomere, because the instability is transferred to the chromosome donating a translocation. Moreover, the amplified regions are unstable and form extrachromosomal DNA that can reintegrate at new locations. Knowledge concerning the factors promoting telomere loss and its consequences is

  10. Development of one set of chromosome-specific microsatellite-containing BACs and their physical mapping in Gossypium hirsutum L.

    Science.gov (United States)

    Wang, Kai; Guo, Wangzhen; Zhang, Tianzhen

    2007-09-01

    Fluorescence in situ hybridization (FISH), using bacterial artificial chromosome (BAC) clone as probe, is a reliable cytological technique for chromosome identification. It has been used in many plants, especially in those containing numerous small chromosomes. We previously developed eight chromosome-specific BAC clones from tetraploid cotton, which were used as excellent cytological markers for chromosomes identification. Here, we isolated the other chromosome-specific BAC clones to make a complete set for the identification of all 26 chromosome-pairs by this technology in tetraploid cotton (Gossypium hirsutum L.). This set of BAC markers was demonstrated to be useful to assign each chromosome to a genetic linkage group unambiguously. In addition, these BAC clones also served as convenient and reliable landmarks for establishing physical linkage with unknown targeted sequences. Moreover, one BAC containing an EST, with high sequence similarity to a G. hirsutum ethylene-responsive element-binding factor was located physically on the long arm of chromosome A7 with the help of a chromosome-A7-specific BAC FISH marker. Comparative analysis of physical marker positions in the chromosomes by BAC-FISH and genetic linkage maps demonstrated that most of the 26 BAC clones were localized close to or at the ends of their respective chromosomes, and indicated that the recombination active regions of cotton chromosomes are primarily located in the distal regions. This technology also enables us to make associations between chromosomes and their genetic linkage groups and re-assign each chromosome according to the corresponding genetic linkage group. This BAC clones and BAC-FISH technology will be useful for us to evaluate grossly the degree to which a linkage map provides adequate coverage for developing a saturated genetic map, and provides a powerful resource for cotton genomic researches.

  11. Dynamics of X Chromosome Inactivation

    NARCIS (Netherlands)

    F. Loos (Friedemann)

    2015-01-01

    markdownabstract__Abstract__ Dosage compensation evolved to account for the difference in expression of sex chromosome-linked genes. In mammals dosage compensation is achieved by inactivation of one X chromosome during early female embryogenesis in a process called X chromosome inactivation (XCI).

  12. Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.

    Science.gov (United States)

    Guediche, N; Brisset, S; Benichou, J-J; Guérin, N; Mabboux, P; Maurin, M-L; Bas, C; Laroudie, M; Picone, O; Goldszmidt, D; Prévot, S; Labrune, P; Tachdjian, G

    2010-02-01

    The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the second case had a normal phenotype except for obesity. Conventional cytogenetic studies showed for each patient a small supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization, these SMCs corresponded to ring chromosomes 20 including a part of short and long arms of chromosome 20. Detailed molecular cytogenetic characterization showed different breakpoints (20p11.23 and 20q11.23 for Patient 1 and 20p11.21 and 20q11.21 for Patient 2) and sizes of the two ring chromosomes 20 (13.6 Mb for case 1 and 4.8 Mb for case 2). Review of the 13 case reports of an extra r(20) ascertained postnatally (8 cases) and prenatally (5 cases) showed varying degrees of phenotypic abnormalities. We document a detailed molecular cytogenetic chromosomal breakpoints characterization of two cases of supernumerary ring chromosomes 20. These results emphasize the need to characterize precisely chromosomal breakpoints of supernumerary ring chromosomes 20 in order to establish genotype-phenotype correlation. This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis.

  13. A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1.

    Science.gov (United States)

    Xu, S Y; Schwartz, M; Rosenberg, T; Gal, A

    1996-08-01

    We studied a large Danish family of seven generations in which autosomal dominant retinitis pigmentosa (adRP), a heterogeneous genetic form of retinal dystrophy, was segregating. After linkage had been excluded to all known adRP loci on chromosomes 3q, 6p, 7p, 7q, 8q, 17p, 17q and 19q, a genome screening was performed. Positive lod scores suggestive of linkage with values ranging between Z = 1.58-5.36 at theta = 0.04-0.20 were obtained for eight loci on proximal 1p and 1q. Close linkage without recombination and a maximum lod score of 7.22 at theta = 0.00 was found between the adRP locus (RP18) in this family and D1S498 which is on 1q very near the centromere. Analysis of multiply informative meioses suggests that in this family D1S534 and D1S305 flank RP18 in interval 1p13-q23. No linkage has been found to loci from this chromosomal region in six other medium sized adRP families in which the disease locus has been excluded from all known chromosomal regions harbouring an adRP gene or locus suggesting that there is (at least) one further adRP locus to be mapped in the future.

  14. Distal Femoral Locking Compression Plate Fixation in Distal Femoral Fractures: Early Results

    Directory of Open Access Journals (Sweden)

    EJ Yeap

    2007-05-01

    Full Text Available We conducted a retrospective review on eleven patients who were treated for Type A and C distal femoral fractures (based on AO classification between January 2004 and December 2004. All fractures were fixed with titanium distal femoral locking compression plate. The patient’s ages ranged from 15 to 85 with a mean of 44. Clinical assessment was conducted at least 6 months post-operatively using the Schatzker scoring system. Results showed that four patients had excellent results, four good, two fair and one failure.

  15. Familial complex chromosomal rearrangement resulting in a recombinant chromosome.

    Science.gov (United States)

    Berend, Sue Ann; Bodamer, Olaf A F; Shapira, Stuart K; Shaffer, Lisa G; Bacino, Carlos A

    2002-05-15

    Familial complex chromosomal rearrangements (CCRs) are rare and tend to involve fewer breakpoints and fewer chromosomes than CCRs that are de novo in origin. We report on a CCR identified in a child with congenital heart disease and dysmorphic features. Initially, the child's karyotype was thought to involve a straightforward three-way translocation between chromosomes 3, 8, and 16. However, after analyzing the mother's chromosomes, the mother was found to have a more complex rearrangement that resulted in a recombinant chromosome in the child. The mother's karyotype included an inverted chromosome 2 and multiple translocations involving chromosomes 3, 5, 8, and 16. No evidence of deletion or duplication that could account for the clinical findings in the child was identified.

  16. Analysis of Prostate Cancer Susceptibility Variants in South African Men: Replicating Associations on Chromosomes 8q24 and 10q11

    Directory of Open Access Journals (Sweden)

    Pedro Fernandez

    2015-01-01

    Full Text Available Genome-wide association studies (GWAS have implicated single nucleotide polymorphisms (SNPs on chromosomes 2p15, 6q25, 7p15.2, 7q21, 8q24, 10q11, 10q26, 11q13, 17q12, 17q24, 19q13, and Xp11, with prostate cancer (PCa susceptibility and/or tumour aggressiveness, in populations of African, European, and Asian ancestry. The objective of this study was to confirm these associations in South African Mixed Ancestry and White men. We evaluated 17 prioritised GWAS SNPs in South African cases (331 Mixed Ancestry and 155 White and controls (178 Mixed Ancestry and 145 White. The replicated SNP associations for the different South African ethnic groups were rs7008482 (8q24 (p=2.45×10-5, rs6983267 (8q24 (p=4.48×10-7, and rs10993994 (10q11 (p=1.40×10-3 in Mixed Ancestry men and rs10993994 (p=1.56×10-9 in White men. No significant associations were observed for the analyses stratified by disease aggressiveness in the individual and the combined population group analysis. The present study demonstrates that a number of known PCa susceptibility variants may contribute to disease susceptibility in South African men. Larger genetic investigations extended to other South African population groups are warranted to confirm the role of these and other SNPs in disease susceptibility.

  17. Anaesthetic management in thoracoscopic distal tracheal resection.

    Science.gov (United States)

    Acosta Martínez, J; Beato López, J; Domínguez Blanco, A; López Romero, J L; López Villalobos, J L

    2017-03-01

    Surgical resection of tracheal tumours, especially distal tracheal tumours, is a challenge for the anaesthesiologists involved, mainly due to difficulties in ensuring adequate control of the airway and ventilation. We report the case of a patient undergoing tracheal resection and anastomosis by VATS, emphasizing the anaesthetic management. Copyright © 2016 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Salter Harris Fractures of the Distal Femur

    Science.gov (United States)

    Hamilton, Steven W.; Barker, Simon L.

    2013-01-01

    Salter Harris–type injuries of the distal femur should be treated as a dislocation of the knee and therefore as a medical emergency. Senior medical staff should be involved early, ankle–brachial index ratio should be measured in all patients and the clinician should have a high index of suspicion for a vascular injury. Ideally reduction, stabilization, and vascular repair, if necessary, should be carried out within 6 hours of the initial event. There should be a low threshold for fasciotomies. These 2 cases demonstrate the importance of having a high index of suspicion for vascular injury and the need for continued reassessment. PMID:26425580

  19. Salter Harris Fractures of the Distal Femur

    Directory of Open Access Journals (Sweden)

    Sean M. McKenna

    2013-07-01

    Full Text Available Salter Harris–type injuries of the distal femur should be treated as a dislocation of the knee and therefore as a medical emergency. Senior medical staff should be involved early, ankle–brachial index ratio should be measured in all patients and the clinician should have a high index of suspicion for a vascular injury. Ideally reduction, stabilization, and vascular repair, if necessary, should be carried out within 6 hours of the initial event. There should be a low threshold for fasciotomies. These 2 cases demonstrate the importance of having a high index of suspicion for vascular injury and the need for continued reassessment.

  20. Distal Renal Tubular Acidosis and Calcium Nephrolithiasis

    Science.gov (United States)

    Moe, Orson W.; Fuster, Daniel G.; Xie, Xiao-Song

    2008-09-01

    Calcium stones are commonly encountered in patients with congenital distal renal tubular acidosis, a disease of renal acidification caused by mutations in either the vacuolar H+-ATPase (B1 or a4 subunit), anion exchanger-1, or carbonic anhydrase II. Based on the existing database, we present two hypotheses. First, heterozygotes with mutations in B1 subunit of H+-ATPase are not normal but may harbor biochemical abnormalities such as renal acidification defects, hypercalciuria, and hypocitraturia which can predispose them to kidney stone formation. Second, we propose at least two mechanisms by which mutant B1 subunit can impair H+-ATPase: defective pump assembly and defective pump activity.

  1. Distal extremity necrosis in captive birds.

    Science.gov (United States)

    Calle, P P; Montali, R J; Janssen, D L; Stoskopf, M K; Strandberg, J D

    1982-10-01

    The necropsy files of the National Zoological Park and Baltimore Zoological Society were reviewed for cases of distal extremity necrosis (DEN) in birds. Nineteen cases of DEN occurred following either trauma or frostbite. Six birds developed an apparently primary type of DEN in which no predisposing factors were obvious clinically. The toes and feet were most commonly involved, and in several cases the beak was also affected. Some pathologic evidence is provided that certain cardiovascular lesions may predispose birds to DEN by compromising circulation of the extremities.

  2. Distal fibula fracture diagnosed with ultrasound imaging.

    Science.gov (United States)

    Kardouni, Joseph R

    2012-10-01

    The patient was a 31-year-old man serving in a military special forces unit at a remote location. He presented to a physical therapist with a chief complaint of worsening right lateral ankle pain that limited his ability to bear weight. Because the patient met the Ottawa ankle rules and there was concern for a fracture, radiographs were indicated. However, the nearest facility with radiographic capabilities was only available through air medical evacuation. Therefore, the physical therapist assessed the patient's ankle with an onsite portable ultrasound imaging unit, which demonstrated cortical irregularity along the distal fibula.

  3. Periosteal osteoblastoma of the distal femur

    Energy Technology Data Exchange (ETDEWEB)

    Nakatani, Tetsuya; Yamamoto, Tetsuji; Akisue, Toshihiro; Marui, Takashi; Hitora, Toshiaki; Kawamoto, Teruya; Nagira, Keiko; Yoshiya, Shinichi; Kurosaka, Masahiro [Department of Orthopaedic Surgery, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe (Japan); Fujita, Ikuo; Matsumoto, Keiji [Department of Orthopaedic Surgery, Hyogo Medical Center for Adults, Akashi, Hyogo (Japan)

    2004-02-01

    Osteoblastomas located on the surface of the cortical bone, so-called periosteal osteoblastomas, are extremely rare. We report on a case of periosteal osteoblastoma arising from the posterior surface of the right distal femur in a 17-year-old man. Roentgenographic, computed tomographic, magnetic resonance imaging, and histologic features of the case are presented. Periosteal osteoblastoma should be radiologically and histologically differentiated from myositis ossificans, avulsive cortical irregularity syndrome, osteoid osteoma, parosteal osteosarcoma, periosteal osteosarcoma, and high-grade surface osteosarcoma. Although periosteal osteoblastoma is rare, this tumor should be included in the differential diagnosis of surface-type bone tumors. (orig.)

  4. Chromosome 19 International Workshop

    Energy Technology Data Exchange (ETDEWEB)

    Pericak-Vance, M.A. (Duke Univ., Durham, NC (United States). Medical Center); Ropers, H.H. (Univ. Hospital Nijmegen, (The Netherlands). Dept. of Human Genetics); Carrano, A.J. (Lawrence Livermore National Lab., CA (United States))

    1993-01-04

    The Second International Workshop on Human Chromosome 19 was hosted on January 25 and 26, 1992, by the Department of Human Genetics, University Hospital Nijmegen, The Netherlands, at the 'Meerdal Conference Center'. The workshop was supported by a grant from the European Community obtained through HUGO, the Dutch Research Organization (NWO) and the Muscular Dystrophy Association (MDA). Travel support for American participants was provided by the Department of Energy. The goals of this workshop were to produce genetic, physical and integrated maps of chromosome 19, to identify inconsistencies and gaps, and to discuss and exchange resources and techniques available for the completion of these maps. The second day of the meeting was largely devoted to region or disease specific efforts. In particular, the meeting served as a platform for assessing and discussing the recent progress made into the molecular elucidation of myotonic dystrophy.

  5. Escherichia coli Chromosomal Loci Segregate from Midcell with Universal Dynamics.

    Science.gov (United States)

    Cass, Julie A; Kuwada, Nathan J; Traxler, Beth; Wiggins, Paul A

    2016-06-21

    The structure of the Escherichia coli chromosome is inherently dynamic over the duration of the cell cycle. Genetic loci undergo both stochastic motion around their initial positions and directed motion to opposite poles of the rod-shaped cell during segregation. We developed a quantitative method to characterize cell-cycle dynamics of the E. coli chromosome to probe the chromosomal steady-state mobility and segregation process. By tracking fluorescently labeled chromosomal loci in thousands of cells throughout the entire cell cycle, our method allows for the statistical analysis of locus position and motion, the step-size distribution for movement during segregation, and the locus drift velocity. The robust statistics of our detailed analysis of the wild-type E. coli nucleoid allow us to observe loci moving toward midcell before segregation occurs, consistent with a replication factory model. Then, as segregation initiates, we perform a detailed characterization of the average segregation velocity of loci. Contrary to origin-centric models of segregation, which predict distinct dynamics for oriC-proximal versus oriC-distal loci, we find that the dynamics of loci were universal and independent of genetic position.

  6. Engineering targeted chromosomal amplifications in human breast epithelial cells.

    Science.gov (United States)

    Springer, Simeon; Yi, Kyung H; Park, Jeenah; Rajpurohit, Anandita; Price, Amanda J; Lauring, Josh

    2015-07-01

    Chromosomal amplifications are among the most common genetic alterations found in human cancers. However, experimental systems to study the processes that lead to specific, recurrent amplification events in human cancers are lacking. Moreover, some common amplifications, such as that at 8p11-12 in breast cancer, harbor multiple driver oncogenes, which are poorly modeled by conventional overexpression approaches. We sought to develop an experimental system to model recurrent chromosomal amplification events in human cell lines. Our strategy is to use homologous-recombination-mediated gene targeting to deliver a dominantly selectable, amplifiable marker to a specified chromosomal location. We used adeno-associated virus vectors to target human MCF-7 breast cancer cells at the ZNF703 locus, in the recurrent 8p11-12 amplicon, using the E. coli inosine monophosphate dehydrogenase (IMPDH) enzyme as a marker. We applied selective pressure using IMPDH inhibitors. Surviving clones were found to have increased copy number of ZNF703 (average 2.5-fold increase) by droplet digital PCR and FISH. Genome-wide array comparative genomic hybridization confirmed that amplifications had occurred on the short arm of chromosome 8, without changes on 8q or other chromosomes. Patterns of amplification were variable and similar to those seen in primary human breast cancers, including "sawtooth" patterns, distal copy number loss, and large continuous regions of copy number gain. This system will allow study of the cis- and trans-acting factors that are permissive for chromosomal amplification and provide a model to analyze oncogene cooperativity in amplifications harboring multiple candidate driver genes.

  7. Laparoscopic three-port distal pancreatectomy

    Science.gov (United States)

    Subhas, Gokulakkrishna; Gupta, Natasha; Mittal, Vijay K; Jacobs, Michael J

    2011-01-01

    Aims Laparoscopic distal pancreatectomy is becoming a more commonly used procedure, which may involve the use of four to seven ports, depending on the technique. Initial data on feasibility, safety and outcome with the three-port laparoscopic distal pancreatectomy are presented. Methods The patient is placed in a partial thoracoabdominal position exposing the left flank in a reverse Trendelenberg position. A 10-mm Hassan trocar is inserted through a subcostal anterior axillary incision. A 5-mm midclavicular and 10-mm posterior axillary line trocar are placed. The specimen is retrieved from the anterior axillary line port. Results Ten women and seven men, aged 26–88 years (mean 61 years), were evaluated. Their body mass indexes ranged from 18–37 (mean 27). Pancreatic lesion size ranged from 1.0–5.5 cm (mean 3.0 cm). Operative time was 116–296 min (mean 170 min). Blood loss was 10–300 ml (mean 142 ml). No operation required conversion or additional trocar placement. Post-operative stay was 2–7 days (mean 4 days). No patient developed a pancreatic fistula. Conclusion Operative time, blood loss and post-operative stay of this three-port technique compare favourably with published data. PMID:21492337

  8. Ruptures of the distal biceps tendon.

    Science.gov (United States)

    Ward, James P; Shreve, Mark C; Youm, Thomas; Strauss, Eric J

    2014-01-01

    Distal biceps ruptures occur most commonly in middle-aged males and result from eccentric contraction of the biceps tendon. The injury typically presents with pain and a tearing sensation in the antecubital fossa with resultant weakness in flexion and supination strength. Physical exam maneuvers and diagnostic imaging aid in determining the diagnosis. Nonoperative management is reserved for elderly, low demand patients, while operative intervention is generally pursued for younger patients and can consist of nonanatomic repair to the brachialis or anatomic repair to the radial tuberosity. Anatomic repair through a one-incision or two-incision approach is commonplace, while the nonanatomic repairs are rarely performed. No clear advantage exists in operative management with a one-incision versus two-incision techniques. Chronic ruptures present a more difficult situation, and allograft augmentation is often necessary. Common complications after repair include transient nerve palsy, which often resolves, and heterotopic ossification. Despite these possible complications, most studies suggest that better patient outcomes are obtained with operative, anatomic reattachment of the distal biceps tendon.

  9. Osteoid osteoma of the distal clavicle

    Directory of Open Access Journals (Sweden)

    Bernardo Barcellos Terra

    Full Text Available ABSTRACT The osteoid osteoma is a bone tumor that accounts for 10% of benign tumors. It was described in 1935 by Jaffe, as a tumor that affects the young adult population, with a predominance of males. This study aims to present a case of late diagnosis of a patient with osteoid osteoma of the distal clavicle region. Female patient, 44 years old, non-professional volleyball player, reported pain in the anterior and superior region of the shoulder girdle, specifically in the acromioclavicular joint, which worsened at night and had been treated for nine months as tendinitis of the rotator cuff and acromioclavicular joint arthritis. After confirming the diagnosis, the patient underwent open surgery with resection of the distal clavicle. At two years of follow-up, the patient presents without local pain. In the radiographic evaluation, coracoclavicular distance is preserved and there are no signs of recurrence. Tumors of the shoulder girdle are rare and are often diagnosed late. A high degree of suspicion for the diagnosis of tumors of the shoulder girdle is needed in order to avoid late diagnosis.

  10. Role of dopamine in distal retina.

    Science.gov (United States)

    Popova, E

    2014-05-01

    Dopamine is the most abundant catecholamine in the vertebrate retina. Despite the description of retinal dopaminergic cells three decades ago, many aspects of their function in the retina remain unclear. There is no consensus among the authors about the stimulus conditions for dopamine release (darkness, steady or flickering light) as well as about its action upon the various types of retinal cells. Many contradictory results exist concerning the dopamine effect on the gross electrical activity of the retina [reflected in electroretinogram (ERG)] and the receptors involved in its action. This review summarized current knowledge about the types of the dopaminergic neurons and receptors in the retina as well as the effects of dopamine receptor agonists and antagonists on the light responses of photoreceptors, horizontal and bipolar cells in both nonmammalian and mammalian retina. Special focus of interest concerns their effects upon the diffuse ERG as a useful tool for assessment of the overall function of the distal retina. An attempt is made to reveal some differences between the dopamine actions upon the activity of the ON versus OFF channel in the distal retina. The author has included her own results demonstrating such differences.

  11. Distal vacuolar myopathy in nephropathic cystinosis.

    Science.gov (United States)

    Charnas, L R; Luciano, C A; Dalakas, M; Gilliatt, R W; Bernardini, I; Ishak, K; Cwik, V A; Fraker, D; Brushart, T A; Gahl, W A

    1994-02-01

    Nephropathic cystinosis is a lysosomal storage disorder leading to renal failure by age 10 years. Prolonged patient survival following renal transplantation has allowed the development of previously unknown long-term complications. Muscle involvement has been reported in a single posttransplant cystinosis patient, but the range of clinical, electrophysiologic, and histologic features has not been fully described. Thirteen of 54 post-renal-transplant patients that we examined developed weakness and wasting in the small hand muscles, with or without facial weakness and dysphagia. Tendon reflexes were preserved and sensory examinations were normal. Electrophysiologic studies in 11 affected patients showed normal nerve conduction velocities and preserved sensory action potentials. The voluntary motor units in the affected distal muscles had reduced amplitude and brief duration, confirmed with quantitative electromyography in 4 patients. Biopsy of the severely affected abductor digiti minimi or extensor carpi radialis brevis muscles in 2 patients revealed marked fiber size variability, prominent acid phosphatase-positive vacuoles, and absence of fiber type grouping or inflammatory cells. Crystals of cystine were detected in perimysial cells but not within the muscle cell vacuoles. The muscle cystine content of clinically affected muscles was markedly elevated. We conclude that a distal vacuolar myopathy is a common late complication of untreated nephropathic cystinosis. Although the cause is unclear, the general lysosomal defect in this disease may also affect the lysosomes within muscle fibers.

  12. Patellar instability treated with distal femoral osteotomy.

    Science.gov (United States)

    Swarup, Ishaan; Elattar, Osama; Rozbruch, S Robert

    2017-06-01

    Patellar instability can cause significant disability in both pediatric and adult patients, and it is associated with several factors including genu valgum. In this study, we describe the role of a lateral opening wedge distal femoral osteotomy (DFO) combined with lateral retinacular release in addressing genu valgum with associated patellar instability. The rationale for this approach is to medialize the patellar tendon insertion and decrease the Q angle with DFO. A consecutive series of patients were studied, and our outcomes of interest included improvements in radiographic measures and patient outcomes. Radiographic improvement was assessed using patella congruency angle (PCA), mechanical axis deviation (MAD), and lateral distal femoral angle (LDFA). Patient outcomes were assessed using Oxford Knee scores, KOOS-PS scores, VAS pain scores, and Kujala scores. We studied eight patients (10 knees) that underwent a lateral opening wedge DFO for genu valgum and patellar instability. Mean follow-up duration was 27 months. PCA improved from 30.4° lateral preoperatively to 5.7° lateral postoperatively (p=0.016). Similarly, MAD improved from 33.1mm lateral to 6.5mm medial, and LDFA improved from 82.4° to 92.7° after surgery (p=0.002). There were significant improvements in VAS pain and Kujala scores after surgery (pgenu valgum. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. DIAGNÓSTICO ECOCARDIOGRÁFICO DE VENTANA AORTOPULMONAR DISTAL / Echocardiographic diagnosis of distal aortopulmonary window

    Directory of Open Access Journals (Sweden)

    Adel E. González Morejón

    2013-04-01

    Full Text Available Resumen: La ventana aortopulmonar es una comunicación entre la aorta ascendente y la arteria pulmonar, con válvulas sigmoideas bien diferenciadas.Los defectos distales son menos frecuentes y se presentan aproximadamente en 25 % de todos los pacientes con ventana aortopulmonar. Aunque la ecocardiografía transtorácica bidimensional puede proveer un diagnóstico certero en la mayoría de los casos, algunos autores solicitan la realización de otros estudios. Se presenta una lactante de 40 días de edad con diagnóstico ecocardiográfico de ventana aortopulmonar distal, que fue confirmado en el quirófano, sin necesidad de realizar otros estudios. A los 9 meses de seguimiento clínico y ecocardiográfico, la paciente se mantiene asintomática. / Abstract: The aortopulmonary window is a communication between the ascending aorta and the pulmonary artery, with well differentiated semilunar valves. Distal defects are less common and occur in approximately 25% of all patients with aortopulmonary window. Although two-dimensional transthoracic echocardiography can provide an accurate diagnosis in most cases, some authors ask for further studies. This is the case of a 40-day-old infant with echocardiographic diagnosis of distal aortopulmonary window that was confirmed in the operating room without further studies. At 9 months of clinical and echocardiographic follow-up, the patient remains asymptomatic.

  14. Jumping translocation in acute monocytic leukemia (M5b) with alternative breakpoint sites in the long arm of donor chromosome 3.

    Science.gov (United States)

    McGrattan, Peter; Logan, Amy; Humphreys, Mervyn; Bowers, Margaret

    2010-09-01

    An 86-year-old man presented with acute hepatic failure, worsening thrombocytopenia, and anemia having been diagnosed and managed expectantly with cytogenetically normal RAEB-1. After 20 months a diagnosis of disease transformation to acute monocytic leukemia (M5b) was made. Conventional G-banded analysis of unstimulated bone marrow cultures demonstrated a jumping translocation (JT) involving proximal and distal breakpoints on donor chromosome 3 at bands 3q1?2 and 3q21, respectively. Recipient chromosomes included the long-arm telomeric regions of chromosomes 5, 10, 14, 16, and 19. A low-level trisomy 8 clone was also found in association with both proximal and distal JT clones. Conventional G-banded analysis of unstimulated peripheral blood cultures detected the proximal 3q1?2 JT clone involving recipient chromosome 10 several weeks after transformation to acute monocytic leukemia. Interestingly, JTs involving recipient chromosomes 5, 14, 16, and 19 were not detected in this peripheral blood sample. Palliative care was administered until his demise 2.2 months after disease transformation. There have been fewer than 70 cases of acquired JTs reported in the literature, including one myeloproliferative neoplasm and five acute myeloid leukemias involving a single breakpoint site on donor chromosome 3. Our case is unique as it is the first acquired case to demonstrate a JT involving alternative pericentromeric breakpoint sites on a single donor chromosome consisting of a proximal breakpoint at 3q1?2 and a more distal breakpoint at 3q21.

  15. A chromosome bin map of 2148 expressed sequence tag loci of wheat homoeologous group 7.

    Science.gov (United States)

    Hossain, K G; Kalavacharla, V; Lazo, G R; Hegstad, J; Wentz, M J; Kianian, P M A; Simons, K; Gehlhar, S; Rust, J L; Syamala, R R; Obeori, K; Bhamidimarri, S; Karunadharma, P; Chao, S; Anderson, O D; Qi, L L; Echalier, B; Gill, B S; Linkiewicz, A M; Ratnasiri, A; Dubcovsky, J; Akhunov, E D; Dvorák, J; Miftahudin; Ross, K; Gustafson, J P; Radhawa, H S; Dilbirligi, M; Gill, K S; Peng, J H; Lapitan, N L V; Greene, R A; Bermudez-Kandianis, C E; Sorrells, M E; Feril, O; Pathan, M S; Nguyen, H T; Gonzalez-Hernandez, J L; Conley, E J; Anderson, J A; Choi, D W; Fenton, D; Close, T J; McGuire, P E; Qualset, C O; Kianian, S F

    2004-10-01

    The objectives of this study were to develop a high-density chromosome bin map of homoeologous group 7 in hexaploid wheat (Triticum aestivum L.), to identify gene distribution in these chromosomes, and to perform comparative studies of wheat with rice and barley. We mapped 2148 loci from 919 EST clones onto group 7 chromosomes of wheat. In the majority of cases the numbers of loci were significantly lower in the centromeric regions and tended to increase in the distal regions. The level of duplicated loci in this group was 24% with most of these loci being localized toward the distal regions. One hundred nineteen EST probes that hybridized to three fragments and mapped to the three group 7 chromosomes were designated landmark probes and were used to construct a consensus homoeologous group 7 map. An additional 49 probes that mapped to 7AS, 7DS, and the ancestral translocated segment involving 7BS also were designated landmarks. Landmark probe orders and comparative maps of wheat, rice, and barley were produced on the basis of corresponding rice BAC/PAC and genetic markers that mapped on chromosomes 6 and 8 of rice. Identification of landmark ESTs and development of consensus maps may provide a framework of conserved coding regions predating the evolution of wheat genomes.

  16. Biomechanical comparison of osteoporotic distal radius fractures fixed by distal locking screws with different length.

    Science.gov (United States)

    Liu, Xiong; Wu, Wei-dong; Fang, Ya-feng; Zhang, Mei-chao; Huang, Wen-hua

    2014-01-01

    To evaluate the postoperative stability of osteoporotic distal radius fractures fixed with distal locking screws with different length. A comminuted extra-articular dorsally unstable distal radius fracture, treated with volar locking plate system, was created. The 18 specimens were randomized into 3 groups based on distal locked screws with different length: Group A had unicortical screws with 50% length to the dorsal cortex. Group B had unicortical screws with 75% length to the dorsal cortex. Group C had bicortical screws. Axial compression and bending loads were imposed on the models before and after cycling testing as well as load to clinical and catastrophic failure. Minimum change in stiffness was observed before and after fatigue for all groups. The final stiffness to bending forces was statistically similar in all groups, but stiffness to axial compression was statistically significant different: Group A approached significance with respect to groups B and C (P = 0.017, 0.009), whereas stiffness in group B and C was statistically similar (P = 0.93). Load to clinical failure was significantly less for group A (456.54±78.59 N) compared with groups B (580.24±73.85 N) and C (591.07±38.40 N). Load to catastrophic failure was statistically similar between groups, but mean values for Group A were 18% less than means for Group C. The volar locking plate system fixed with unicortical locking screws with at least 75% length not only produced early stability for osteoporotic distal radius fractures, but also avoided extensor tendon complications due to dorsal screw protrusion.

  17. Biomechanical comparison of osteoporotic distal radius fractures fixed by distal locking screws with different length.

    Directory of Open Access Journals (Sweden)

    Xiong Liu

    Full Text Available To evaluate the postoperative stability of osteoporotic distal radius fractures fixed with distal locking screws with different length.A comminuted extra-articular dorsally unstable distal radius fracture, treated with volar locking plate system, was created. The 18 specimens were randomized into 3 groups based on distal locked screws with different length: Group A had unicortical screws with 50% length to the dorsal cortex. Group B had unicortical screws with 75% length to the dorsal cortex. Group C had bicortical screws. Axial compression and bending loads were imposed on the models before and after cycling testing as well as load to clinical and catastrophic failure.Minimum change in stiffness was observed before and after fatigue for all groups. The final stiffness to bending forces was statistically similar in all groups, but stiffness to axial compression was statistically significant different: Group A approached significance with respect to groups B and C (P = 0.017, 0.009, whereas stiffness in group B and C was statistically similar (P = 0.93. Load to clinical failure was significantly less for group A (456.54±78.59 N compared with groups B (580.24±73.85 N and C (591.07±38.40 N. Load to catastrophic failure was statistically similar between groups, but mean values for Group A were 18% less than means for Group C.The volar locking plate system fixed with unicortical locking screws with at least 75% length not only produced early stability for osteoporotic distal radius fractures, but also avoided extensor tendon complications due to dorsal screw protrusion.

  18. Microcephaly/lymphedema and terminal deletion of the long arm of chromosome 13

    Energy Technology Data Exchange (ETDEWEB)

    Fryns, J.P. [Univ. of Leuven (Belgium)

    1995-07-03

    Recently, we examined a 2-year-old boy with the association of microcephaly and significant pedal edema that extended to the distal parts of the legs. Prometaphase chromosome studies showed a small terminal deletion in the long arm of chromosome 13 of band 13q34, karyotype 46,XY,del(13)(q34{yields}qter). The present finding of a small terminal 13q34 deletion in this young boy with microcephaly/lymphedema is a first indication that the lymphedema/microcephaly association can be due to a small terminal 13q deletion. 2 refs.

  19. Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine

    Energy Technology Data Exchange (ETDEWEB)

    Deeb, S.S.; Disteche, C.; Motulsky, A.G.; Lebo, R.V.; Kan, Y.W.

    1986-01-01

    A cDNA clone of the human apolipoprotein B-100 was used as a hybridization probe to detect homologous sequences in both flow-sorted and in situ metaphase chromosomes. The results indicate that the gene encoding this protein is on the distal end of the short arm of chromosome 2 (2p23-2p24). RNA isolated from monkey small intestine contained sequences (6.5 and 18 kilobases) homologous to the cDNA of apolipoprotein B-100. These results are consistent with the hypothesis that one gene codes for both the intestinal (B-48) and the hepatic (B-100) forms.

  20. PHILOS humerus plate for a distal tibial fracture.

    Science.gov (United States)

    Twaij, Haider; Damany, Dev

    2013-01-04

    This report discusses the use of an alternative implant in the emergency fixation of a distal tibial fracture. We planned to fix the shear-type medial malleolar fracture in a closed, tri-malleolar fracture with a locking distal tibial plate. Intra-operatively, it was noted that the required plate was unavailable. A PHILOS humeral plate seemed to fit the contours of the distal tibia. The broad end of the PHILOS, when placed distally, gave options to place locking screws in the medial malleolar fragment. The fracture was stable after fixation. The patient made a full post-operative recovery and follow-up at 4 months was satisfactory. Despite adequate planning, there will be instances where one has to improvise. An understanding of the principles of fracture management can aid in finding solutions. PHILOS humeral plate may be used to stabilize a distal tibial fracture if an appropriate distal tibial locking plate is not available.

  1. Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report.

    Science.gov (United States)

    Quiroga, R; Monfort, S; Oltra, S; Ferrer-Bolufer, I; Roselló, M; Mayo, S; Martinez, F; Orellana, C

    2011-01-01

    Several authors have attempted to construct a phenotype map for duplications of different portions of chromosome 18 to identify a possible critical region (CR) for Edwards Syndrome. Partial duplications of 18q have been reported in the literature involving the distal CR in patients with some clinical features of Edwards Syndrome. Here, we describe a phenotypically normal male with a large duplication on chromosome 18 that involves the proposed distal CR. The lack of clinical features is remarkable, except for pathological semen analysis, which suggests that terminal 17.4 Mb of 18q do not contain the Edwards Syndrome CR. Alternatively, unknown modifier factors or undetected somatic mosaicism might cause incomplete penetrance of this duplication.

  2. Mapping of guanylin to murine chromosome 4 and human chromosome 1p34-p35

    Energy Technology Data Exchange (ETDEWEB)

    Sciaky, D.; Cohen, M.B. [Univ. of Cincinnati, OH (United States); Jenkins, N.A. [Mammalian Genetics Lab., Frederick, MD (United States)] [and others

    1995-03-20

    Guanylin is a 15-amino-acid peptide similar in structure and in function to ST{sub a}, the heat stable enterotoxin of enterotoxigenic Escherichia coli (4). Both guanylin and ST{sub a} bind guanylyl cyclase-C (GC-C), resulting in increased levels of intracellular cGMP and induction of Cl- secretion (4) via the cystic fibrosis transmembrane regulator (CFM) (2). Guanylin is a highly regulated intestinal gene that is differentially expressed along the duodenal-to-colonic and villus-to-crypt axes. Guanylin mRNA abundance is maximal in the distal small intestine and proximal colon, where the mRNA is detected mainly in differentiated villus epithelial cells and superficial colonic epithelial cells, respectively. The murine guanylin gene (Guca2) has been isolated and sequenced; the gene is 1.7 kb and consists of 3 exons. We report here the mapping of Guca2 to mouse chromosome 4 by linkage analysis and to human chromosome region 1p34-p35 using fluorescence in situ hybridization (FISH). 20 refs., 2 figs.

  3. Ultrasound-Assisted Distal Radius Fracture Reduction

    Science.gov (United States)

    Socransky, Steve; Skinner, Andrew; Bromley, Mark; Smith, Andrew; Anawati, Alexandre; Middaugh, Jeff; Ross, Peter

    2016-01-01

    Introduction Closed reduction of distal radius fractures (CRDRF) is a commonly performed emergency department (ED) procedure. The use of point-of-care ultrasound (PoCUS) to diagnose fractures and guide reduction has previously been described. The primary objective of this study was to determine if the addition of PoCUS to CRDRF changed the perception of successful initial reduction. This was measured by the rate of further reduction attempts based on PoCUS following the initial clinical determination of achievement of best possible reduction. Methods  We performed a multicenter prospective cohort study, using a convenience sample of adult ED patients presenting with a distal radius fracture to five Canadian EDs. All study physicians underwent standardized PoCUS training for fractures. Standard clinically-guided best possible fracture reduction was initially performed. PoCUS was then used to assess the reduction adequacy. Repeat reduction was performed if deemed indicated. A post-reduction radiograph was then performed. Clinician impression of reduction adequacy was scored on a 5 point Likert scale following the initial clinically-guided reduction and following each PoCUS scan and the post-reduction radiograph. Results  There were 131 patients with 132 distal radius fractures. Twelve cases were excluded prior to analysis. There was no significant difference in the assessment of the initial reduction status by PoCUS as compared to the clinical exam (mean score: 3.8 vs. 3.9; p = 0.370; OR 0.89; 95% CI 0.46 to 1.72; p = 0.87). Significantly fewer cases fell into the uncertain category with PoCUS than with clinical assessment (2 vs 12; p = 0.008). Repeat reduction was performed in 49 patients (41.2%). Repeat reduction led to a significant improvement (p < 0.001) in the PoCUS determined adequacy of reduction (mean score: 4.3 vs 3.1; p < 0.001). In this group, the odds ratio for adequate vs. uncertain or inadequate reduction assessment using PoCUS was 12.5 (95% CI 3

  4. Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

    Science.gov (United States)

    Antonarakis, S E; Blouin, J L; Maher, J; Avramopoulos, D; Thomas, G; Talbot, C C

    1993-06-01

    Uniparental disomy (UPD) for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans. We recently studied a 9-year-old female with a de novo Robertsonian translocation t(13;14), short stature, mild developmental delay, scoliosis, hyperextensible joints, hydrocephalus that resolved spontaneously during the first year of life, and hypercholesterolemia. To determine the parental origin of chromosomes 13 and 14 in the proband, we have studied the genotypes of DNA polymorphic markers due to (GT)n repeats in the patient and her parents' blood DNA. The genotypes of markers D14S43, D14S45, D14S49, and D14S54 indicated maternal UPD for chromosome 14. There was isodisomy for proximal markers and heterodisomy for distal markers, suggesting a recombination event on maternal chromosomes 14. In addition, DNA analysis first revealed--and subsequent cytogenetic analysis confirmed--that there was mosaic trisomy 14 in 5% of blood lymphocytes. There was normal (biparental) inheritance for chromosome 13, and there was no evidence of false paternity in genotypes of 11 highly polymorphic markers on human chromosome 21. Two cases of maternal UPD for chromosome 14 have previously been reported, one with a familial rob t(13;14) and the other with a t(14;14). There are several similarities among these patients, and a "maternal UPD chromosome 14 syndrome" is emerging; however, the contribution of the mosaic trisomy 14 to the phenotype cannot be evaluated. The study of de novo Robertsonian translocations of the type reported here should reveal both the extent of UPD in these events and the contribution of particular chromosomes involved in certain phenotypes.

  5. Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13; 14) trisomy 14

    Energy Technology Data Exchange (ETDEWEB)

    Antonarakis, S.E.; Blouin, J.L.; Maher, J.; Avramopoulos, D.; Thomas, G.; Talbot, C.C. Jr. (Johns Hopkins Univ., Baltimore (United States))

    1993-06-01

    Uniparental disomy (UPD) for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans. The authors recently studied a 9-year-old female with a de novo Robertsonian translocation t(13;14), short stature, mild developmental delay, scoliosis, hyperextensible joints, hydrocephalus that resolved spontaneously during the first year of life, and hyperchloesterolemia. To determine the parental origin of chromosomes 13 and 14 in the proband, they have studied the genotypes of DNA polymorphic markers due to (GT)n repeats in the patient and her parents' blood DNA. The genotypes of markers D14S43, D14S45, D14S49, and D14S54 indicated maternal UPD for chromosome 14. There was isodisomy for proximal markers and heterodisomy for distal markers, suggesting a recombination event on maternal chromosomes 14. In addition, DNA analysis first revealed -- and subsequent cytogenetic analysis confirmed -- that there was mosaic trisomy 14 in 5% of blood lymphocytes. There was normal (biparental) inheritance for chromosome 13, and there was no evidence of false paternity in genotypes of 11 highly polymorphic markers on human chromosome 21. Two cases of maternal UPD for chromosome 14 have previously been reported, one with a familial rob t(13;14) and the other with a t(14;14). There are several similarities among these patients, and a [open quotes]maternal UPD chromosome 14 syndrome[close quotes] is emerging; however, the contribution of the mosaic trisomy 14 to the phenotype cannot be evaluated. The study of de novo Robertsonian translocations of the type reported here should reveal both the extent of UPD in these events and the contribution of particular chromosomes involved in certain phenotypes. 33 refs., 3 figs., 1 tab.

  6. Post-transplant distal limb syndrome

    Directory of Open Access Journals (Sweden)

    María Florencia Borghi Torzillo

    2017-02-01

    Full Text Available The post-transplant distal limb syndrome is a not well known entity, with a prevalence of 5% in patients with renal transplant. Its diagnosis is based on clinical symptoms, bone scintigraphy and MRI, it has a benign course and the patient recovers without sequel. We present the case of a 37-year-old male, with medical history of hypertension, Berger's disease in 1999 that required dialysis three times a week for four years (2009-2013 and renal transplant in 2013. The patient consults on January 2014 referring severe pain in both feet, with sudden onset; he remembers the exact date of the beginning of the pain and denies trauma, pain prevents ambulation. The bone scintigraphy shows pathological uptake in both feet with no difference between the two. Although there is no treatment for this disease, it has a benign course

  7. Implant arthroplasty for the distal radioulnar joint.

    Science.gov (United States)

    Scheker, Luis R

    2008-11-01

    The distal radioulnar joint (DRUJ) is a weight-bearing joint; the ulnar head is frequently excised either totally or partially and in some cases is fused because of degenerative, rheumatoid, or posttraumatic arthritis and treated with a "salvage procedure." The result of these procedures is the inability of those patients to lift even minor weight. Articles about these procedures report the ability to pronate and supinate, but they rarely discuss grip strength or lifting capacity. We present an alternative to the salvage procedures that allows full range of motions as well as the ability to grip and lift weights encountered in daily living, such as a gallon of milk. The Aptis total DRUJ replacement prosthesis (Aptis Medical, Louisville, KY), a bipolar self-stabilizing DRUJ endoprosthesis, restores the forearm function. The technique of implantation is presented here.

  8. Acute injuries of the distal radioulnar joint.

    Science.gov (United States)

    Nicolaidis, S C; Hildreth, D H; Lichtman, D M

    2000-08-01

    Distal radioulnar joint injuries can occur in isolation or in association with distal radius fractures, Galeazzi fractures, Essex-Lopresti injuries, and both-bone forearm fractures. The authors have classified DRUJ/TFCC injuries into stable, partially unstable (subluxation), and unstable (dislocation) patterns based on the injured structures and clinical findings. Clinical findings and plain radiographs are usually sufficient to diagnose the lesion, but axial CT scans are pathognomonic. Diagnostic arthroscopy is the next test of choice to visualize stable and partially unstable lesions. Stable injuries of the DRUJ/TFCC unresponsive to conservative measures require arthroscopic debridement of the TFCC tear, along with ulnar shortening if there is ulnar-positive variance. Partially unstable injuries, on the other hand, are treated with direct arthroscopic or open repair of the TFCC tear, once again, along with ulnar shortening if ulnar-positive variance is present. Unstable injuries include simple and complex DRUJ dislocations. A simple DRUJ dislocation is easily reducible but may be stable or unstable. In complex dislocation, reduction is not possible because there is soft tissue interposition or a significant tear. After the associated injury is dealt with, treatment for complex injuries requires exploration of the DRUJ, extraction of the interposed tissue, repair of the soft tissues, and open reduction and internal fixation of the ulnar styloid fracture (if present and displaced). The early recognition and appropriate treatment of an acute DRUJ injury are critical to avoid progression to a chronic DRUJ disorder, the treatment of which is much more difficult and much less satisfying.

  9. Chromosome assortment in Saccharum.

    Science.gov (United States)

    Al-Janabi, S M; Honeycutt, R J; Sobral, B W

    1994-12-01

    Recent work has revealed random chromosome pairing and assortment in Saccharum spontaneum L., the most widely distributed, and morphologically and cytologically variable of the species of Saccharum. This conclusion was based on the analysis of a segregating population from across between S. spontaneum 'SES 208' and a spontaneously-doubled haploid of itself, derived from anther culture. To determine whether polysomic inheritance is common in Saccharum and whether it is observed in a typical biparental cross, we studied chromosome pairing and assortment in 44 progeny of a cross between euploid, meiotically regular, 2n=80 forms of Saccharum officinarum 'LA Purple' and Saccharum robustum ' Mol 5829'. Papuan 2n=80 forms of S. robustum have been suggested as the immediate progenitor species for cultivated sugarcane (S. officinarum). A total of 738 loci in LA Purple and 720 loci in Mol 5829 were amplified and typed in the progeny by arbitrarily primed PCR using 45 primers. Fifty and 33 single-dose polymorphisms were identified in the S. officinarum and S. robustum genomes, respectively (χ 2 at 98%). Linkage analysis of single-dose polymorphisms in both genomes revealed linkages in repulsion and coupling phases. In the S. officinarum genome, a map hypothesis gave 7 linkage groups with 17 linked and 33 unlinked markers. Four of 13 pairwise linkages were in repulsion phase and 9 were in coupling phase. In the S. robustum genome, a map hypothesis gave 5 linkage groups, defined by 12 markers, with 21 markers unlinked, and 2 of 9 pairwise linkages were in repulsion phase. Therefore, complete polysomic inheritance was not observed in either species, suggesting that chromosomal behavior is different from that observed by linkage analysis of over 500 markers in the S. spontaneum map. Implications of this finding for evolution and breeding are discussed.

  10. Intraspecific chromosome variability

    Directory of Open Access Journals (Sweden)

    N Dubinin

    2010-12-01

    Full Text Available (Editorial preface. The publication is presented in order to remind us of one of dramatic pages of the history of genetics. It re-opens for the contemporary reader a comprehensive work marking the priority change from plant cytogenetics to animal cytogenetics led by wide population studies which were conducted on Drosophila polytene chromosomes. The year of the publication (1937 became the point of irretrievable branching between the directions of Old World and New World genetics connected with the problems of chromosome variability and its significance for the evolution of the species. The famous book of T. Dobzhansky (1937 was published by Columbia University in the US under the title “Genetics and the origin of species”, and in the shadow of this American ‘skybuilding’ all other works grew dim. It is remarkable that both Dobzhansky and Dubinin come to similar conclusions about the role of chromosomes in speciation. This is not surprising given that they both might be considered as representatives of the Russian genetic school, by their birth and education. Interestingly, Dobzhansky had never referred to the full paper of Dubinin et al. (1937, though a previous short communication in Nature (1936 was included together with all former papers on the related subject. In full, the volume of the original publication printed in the Biological Journal in Moscow comprised 47 pages, in that number 41 pages of the Russian text accompanied by 16 Figs, a table and reference list, and, above all, 6 pages of the English summary. This final part in English is now reproduced in the authors’ version with the only addition being the reference list in the originally printed form.

  11. Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes.

    Science.gov (United States)

    Fan, Yuxin; Linardopoulou, Elena; Friedman, Cynthia; Williams, Eleanor; Trask, Barbara J

    2002-11-01

    Human chromosome 2 was formed by the head-to-head fusion of two ancestral chromosomes that remained separate in other primates. Sequences that once resided near the ends of the ancestral chromosomes are now interstitially located in 2q13-2q14.1. Portions of these sequences had duplicated to other locations prior to the fusion. Here we present analyses of the genomic structure and evolutionary history of >600 kb surrounding the fusion site and closely related sequences on other human chromosomes. Sequence blocks that closely flank the inverted arrays of degenerate telomere repeats marking the fusion site are duplicated at many, primarily subtelomeric, locations. In addition, large portions of a 168-kb centromere-proximal block are duplicated at 9pter, 9p11.2, and 9q13, with 98%-99% average sequence identity. A 67-kb block on the distal side of the fusion site is highly homologous to sequences at 22qter. A third ~100-kb segment is 96% identical to a region in 2q11.2. By integrating data on the extent and similarity of these paralogous blocks, including the presence of phylogenetically informative repetitive elements, with observations of their chromosomal distribution in nonhuman primates, we infer the order of the duplications that led to their current arrangement. Several of these duplicated blocks may be associated with breakpoints of inversions that occurred during primate evolution and of recurrent chromosome rearrangements in humans.

  12. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

    DEFF Research Database (Denmark)

    Thevenon, Julien; Monnier, Nicole; Callier, Patrick

    2014-01-01

    Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20-25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis......, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 microdeletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low...

  13. Paternal uniparental isodisomy for human chromosome 20 and absence of external ears

    Energy Technology Data Exchange (ETDEWEB)

    Spinner, N.B.; Rand, E.; McDonald-McGinn, D.M. [Childrens Hospital of Philadelphia, PA (United States)] [and others

    1994-09-01

    Uniparental disomy can cause disease if the involved chromosomal region contains imprinted genes. Uniparental disomy for portions of human chromosomes 6, 7, 9, 11, 14 and 15 have been associated with abnormal phenotypes. We studied a patient with multiple abnormalities including an absent left ear with a small right ear remnant, microcephaly, congenital heart disease and Hirschprung`s disease. Cytogenetics revealed a 45,XY,-20,-20,+ter rea(20;20)(p13;p13) in 10/10 cells from bone marrow and 20/20 cells from peripheral blood. Analysis of a skin culture revealed a second cell line with trisomy 20 resulting from an apparently normal chromosome 20 in addition to the terminally rearranged chromosome, in 8/100 cells studied. The unusual phenotype of our patient was not consistent with previously reported cases of deletions of 20p or mosaic trisomy 20. We hypothesized that the patient`s phenotype could either result from deletion of both copies of a gene near the p arm terminus of chromosome 20 or from uniparental disomy of chromosome 20. There were no alterations or rearrangements of PTP-alpha (which maps to distal 20p) by Southern or Northern blot analysis. A chromosome 20 sub-telomeric probe was found to be present on the rearranged 20 by FISH suggesting that subtelomeric sequences have not been lost as a consequece of this rearrangement. To determine the parental origin of the 2 chromosome 20`s in the terminal rearrangement, we studied the genotypes of the proband and his parents in lymphoblastoid cell lines at 8 polymorphic loci. Genotypes at D20S115, D20S186, and D20S119 indicated that there was paternal isodisomy. Other loci were uninformative. This is the first example of uniparental disomy for chromosome 20. Further studies are warranted to correlate phenotype with uniparental inheritance of this chromosome.

  14. Genetic Diversity on the Human X Chromosome Does Not Support a Strict Pseudoautosomal Boundary.

    Science.gov (United States)

    Cotter, Daniel J; Brotman, Sarah M; Wilson Sayres, Melissa A

    2016-05-01

    Unlike the autosomes, recombination between the X chromosome and the Y chromosome is often thought to be constrained to two small pseudoautosomal regions (PARs) at the tips of each sex chromosome. PAR1 spans the first 2.7 Mb of the proximal arm of the human sex chromosomes, whereas the much smaller PAR2 encompasses the distal 320 kb of the long arm of each sex chromosome. In addition to PAR1 and PAR2, there is a human-specific X-transposed region that was duplicated from the X to the Y chromosome. The X-transposed region is often not excluded from X-specific analyses, unlike the PARs, because it is not thought to routinely recombine. Genetic diversity is expected to be higher in recombining regions than in nonrecombining regions because recombination reduces the effect of linked selection. In this study, we investigated patterns of genetic diversity in noncoding regions across the entire X chromosome of a global sample of 26 unrelated genetic females. We found that genetic diversity in PAR1 is significantly greater than in the nonrecombining regions (nonPARs). However, rather than an abrupt drop in diversity at the pseudoautosomal boundary, there is a gradual reduction in diversity from the recombining through the nonrecombining regions, suggesting that recombination between the human sex chromosomes spans across the currently defined pseudoautosomal boundary. A consequence of recombination spanning this boundary potentially includes increasing the rate of sex-linked disorders (e.g., de la Chapelle) and sex chromosome aneuploidies. In contrast, diversity in PAR2 is not significantly elevated compared to the nonPARs, suggesting that recombination is not obligatory in PAR2. Finally, diversity in the X-transposed region is higher than in the surrounding nonPARs, providing evidence that recombination may occur with some frequency between the X and Y chromosomes in the X-transposed region.

  15. Positional and functional mapping of a neuroblastoma differentiation gene on chromosome 11

    Directory of Open Access Journals (Sweden)

    Bader Scott

    2005-07-01

    Full Text Available Abstract Background Loss of chromosome 11q defines a subset of high-stage aggressive neuroblastomas. Deletions are typically large and mapping efforts have thus far not lead to a well defined consensus region, which hampers the identification of positional candidate tumour suppressor genes. In a previous study, functional evidence for a neuroblastoma suppressor gene on chromosome 11 was obtained through microcell mediated chromosome transfer, indicated by differentiation of neuroblastoma cells with loss of distal 11q upon introduction of chromosome 11. Interestingly, some of these microcell hybrid clones were shown to harbour deletions in the transferred chromosome 11. We decided to further exploit this model system as a means to identify candidate tumour suppressor or differentiation genes located on chromosome 11. Results In a first step, we performed high-resolution arrayCGH DNA copy-number analysis in order to evaluate the chromosome 11 status in the hybrids. Several deletions in both parental and transferred chromosomes in the investigated microcell hybrids were observed. Subsequent correlation of these deletion events with the observed morphological changes lead to the delineation of three putative regions on chromosome 11: 11q25, 11p13->11p15.1 and 11p15.3, that may harbour the responsible differentiation gene. Conclusion Using an available model system, we were able to put forward some candidate regions that may be involved in neuroblastoma. Additional studies will be required to clarify the putative role of the genes located in these chromosomal segments in the observed differentiation phenotype specifically or in neuroblastoma pathogenesis in general.

  16. Vibrio chromosome-specific families

    DEFF Research Database (Denmark)

    Lukjancenko, Oksana; Ussery, David

    2014-01-01

    families, 1169 and 153 are uniquely found in chromosomes 1 and 2, respectively. Gene ontology (GO) terms for each of the protein families were determined, and the different sets for each chromosome were compared. A total of 363 different "Molecular Function" GO categories were found for chromosome 1......We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences. These genomes come from 9 known species and 2 unknown species. Within the finished...

  17. Chromosomal rearrangement interferes with meiotic X chromosome inactivation.

    Science.gov (United States)

    Homolka, David; Ivanek, Robert; Capkova, Jana; Jansa, Petr; Forejt, Jiri

    2007-10-01

    Heterozygosity for certain mouse and human chromosomal rearrangements is characterized by the incomplete meiotic synapsis of rearranged chromosomes, by their colocalization with the XY body in primary spermatocytes, and by male-limited sterility. Previously, we argued that such X-autosomal associations could interfere with meiotic sex chromosome inactivation. Recently, supporting evidence has reported modifications of histones in rearranged chromosomes by a process called the meiotic silencing of unsynapsed chromatin (MSUC). Here, we report on the transcriptional down-regulation of genes within the unsynapsed region of the rearranged mouse chromosome 17, and on the subsequent disturbance of X chromosome inactivation. The partial transcriptional suppression of genes in the unsynapsed chromatin was most prominent prior to the mid-pachytene stage of primary spermatocytes. Later, during the mid-late pachytene, the rearranged autosomes colocalized with the XY body, and the X chromosome failed to undergo proper transcriptional silencing. Our findings provide direct evidence on the MSUC acting at the mRNA level, and implicate that autosomal asynapsis in meiosis may cause male sterility by interfering with meiotic sex chromosome inactivation.

  18. Chromosome Connections: Compelling Clues to Common Ancestry

    Science.gov (United States)

    Flammer, Larry

    2013-01-01

    Students compare banding patterns on hominid chromosomes and see striking evidence of their common ancestry. To test this, human chromosome no. 2 is matched with two shorter chimpanzee chromosomes, leading to the hypothesis that human chromosome 2 resulted from the fusion of the two shorter chromosomes. Students test that hypothesis by looking for…

  19. "Distal common pathway in atrioventricular node reentrant tachycardia "

    Directory of Open Access Journals (Sweden)

    "Moghaddam M

    2001-06-01

    Full Text Available Anotomical boundary of atrioventricular node reentrant tachycardia (AVNRT is composed of fast and slow pathways right atrium in upper turnaround and common distal pathway in lower turnaround. We performed electophsiologic study (EPS in 152 patients and could show the existence of distal common pathway with decremental conduction properties in approximately 40 patients.

  20. Clinical relevance of distal biceps insertional and footprint anatomy

    NARCIS (Netherlands)

    van den Bekerom, Michel P J; Kodde, Izaäk F.; Aster, Asir; Bleys, Ronald L A W; Eygendaal, Denise

    2016-01-01

    Purpose: The aim of this review was to present an overview, based on a literature search, of surgical anatomy for distal biceps tendon repairs, based on the current literature. Methods: A narrative review was performed using Pubmed/Medline using key words: Search terms were distal biceps,

  1. Distal radius fractures: what determines the outcome after surgery?

    NARCIS (Netherlands)

    Teunis, T.

    2016-01-01

    This thesis addresses current issues in the outcome of operatively treated distal radius fractures. The general aim was to determine factors associated with adverse events, loss of motion, functional limitations, and opioid use after surgery. Injury In 3D complete articular distal radius fracture mo

  2. Young Children's Sibling Relationship Quality: Distal and Proximal Correlates

    Science.gov (United States)

    Kretschmer, Tina; Pike, Alison

    2009-01-01

    Background: Relationships within families are interdependent and related to distal environmental factors. Low socioeconomic status (SES) and high household chaos (distal factors) have been linked to less positive marital and parent-child relationships, but have not yet been examined with regard to young children's sibling relationships. The…

  3. Distal clavicular osteolysis: MR evidence for subchondral fracture

    Energy Technology Data Exchange (ETDEWEB)

    Kassarjian, Ara; Palmer, William E. [Massachusetts General Hospital, Department of Radiology, Division of Musculoskeletal Radiology, Yawkey Center, Boston, MA (United States); Llopis, Eva [Hospital de la Ribera, Department of Radiology, Valencia (Spain)

    2007-01-15

    To investigate the association between distal clavicular osteolysis and subchondral fractures of the distal clavicle at MRI. This study was approved by the hospital human research committee, which waived the need for informed consent. Three radiologists retrospectively analyzed 36 shoulder MR examinations in 36 patients with imaging findings of distal clavicular osteolysis. The presence of a subchondral fracture of the distal clavicle, abnormalities of the acromioclavicular joint, rotator cuff tears and labral tears were assessed by MRI. These cases were then compared with 36 age-matched controls. At MRI, 31 of 36 patients (86%) had a subchondral line within the distal clavicular edema, consistent with a subchondral fracture. Of the 36 patients, 32 (89%) had fluid in the acromioclavicular joint, while 27 of 36 patients (75%) had cysts or erosions in the distal clavicle. There were 13 patients (36%) with associated labral tears, while eight patients (22%) had partial-thickness rotator cuff tears. In the control group one of 36 (3%) had a subchondral line (P<0.05), while ten of 36 (28%) had rotator cuff tears and 13 of 36 (36%) had labral tears. These latter two were not statistically significant between the groups. A distal clavicular subchondral fracture is a common finding in patients with imaging evidence of distal clavicular osteolysis. These subchondral fractures may be responsible for the propensity of findings occurring on the clavicular side of the acromioclavicular joint. (orig.)

  4. Lower leg electrical impedance after distal bypass surgery

    DEFF Research Database (Denmark)

    Belanger, G K; Bolbjerg, M L; Heegaard, N H;

    1998-01-01

    Electrical impedance was determined in 13 patients following distal bypass surgery to evaluate lower leg oedema as reflected by its circumference. Tissue injury was assessed by the plasma concentration of muscle enzymes. After surgery, the volume of the control lower leg increased from 1250 (816...... to be a useful method for the evaluation of lower leg oedema after distal bypass surgery....

  5. The distal radial decompression osteotomy for ulnar impingement syndrome.

    Science.gov (United States)

    Krimmer, Hermann; Unglaub, Frank; Langer, Martin F; Spies, Christian K

    2016-01-01

    The decompression of the distal radioulnar joint (DRUJ) is performed by ulnar translation of the radial shaft proximal to the sigmoid notch, i.e. detensioning of the distal part of the interosseous membrane (DIOM) while containment of the DRUJ is achieved by closed wedge osteotomy of the radius. The osteotomy shortens the radius which entails detensioning of the triangular fibrocartilage complex (TFCC). Facilitating the modified Henry approach to the distal palmar radius a radial based wedge osteotomy is applied. The proximal osteotomy is proximal to the ulnar head and distal osteotomy is proximal to the sigmoid notch to prevent iatrogenic impingement. Ulnar translation of the radial shaft is performed to loosen the DIOM. The closed wedge osteotomy reduces radial inclination which will foster containment of the DRUJ. Distal radial decompression osteotomy of the DRUJ preserves DRUJ function while relieving painful impingement. Further surgical interventions are not compromised in case of failure.

  6. An intrinsic timer specifies distal structures of the vertebrate limb.

    Science.gov (United States)

    Saiz-Lopez, Patricia; Chinnaiya, Kavitha; Campa, Victor M; Delgado, Irene; Ros, Maria A; Towers, Matthew

    2015-09-18

    How the positional values along the proximo-distal axis (stylopod-zeugopod-autopod) of the limb are specified is intensely debated. Early work suggested that cells intrinsically change their proximo-distal positional values by measuring time. Recently, however, it is suggested that instructive extrinsic signals from the trunk and apical ectodermal ridge specify the stylopod and zeugopod/autopod, respectively. Here, we show that the zeugopod and autopod are specified by an intrinsic timing mechanism. By grafting green fluorescent protein-expressing cells from early to late chick wing buds, we demonstrate that distal mesenchyme cells intrinsically time Hoxa13 expression, cell cycle parameters and the duration of the overlying apical ectodermal ridge. In addition, we reveal that cell affinities intrinsically change in the distal mesenchyme, which we suggest results in a gradient of positional values along the proximo-distal axis. We propose a complete model in which a switch from extrinsic signalling to intrinsic timing patterns the vertebrate limb.

  7. A 3-Dimensional Anatomic Study of the Distal Biceps Tendon

    Science.gov (United States)

    Walton, Christine; Li, Zhi; Pennings, Amanda; Agur, Anne; Elmaraghy, Amr

    2015-01-01

    Background Complete rupture of the distal biceps tendon from its osseous attachment is most often treated with operative intervention. Knowledge of the overall tendon morphology as well as the orientation of the collagenous fibers throughout the musculotendinous junction are key to intraoperative decision making and surgical technique in both the acute and chronic setting. Unfortunately, there is little information available in the literature. Purpose To comprehensively describe the morphology of the distal biceps tendon. Study Design Descriptive laboratory study. Methods The distal biceps terminal musculature, musculotendinous junction, and tendon were digitized in 10 cadaveric specimens and data reconstructed using 3-dimensional modeling. Results The average length, width, and thickness of the external distal biceps tendon were found to be 63.0, 6.0, and 3.0 mm, respectively. A unique expansion of the tendon fibers within the distal muscle was characterized, creating a thick collagenous network along the central component between the long and short heads. Conclusion This study documents the morphologic parameters of the native distal biceps tendon. Reconstruction may be necessary, especially in chronic distal biceps tendon ruptures, if the remaining tendon morphology is significantly compromised compared with the native distal biceps tendon. Knowledge of normal anatomical distal biceps tendon parameters may also guide the selection of a substitute graft with similar morphological characteristics. Clinical Relevance A thorough description of distal biceps tendon morphology is important to guide intraoperative decision making between primary repair and reconstruction and to better select the most appropriate graft. The detailed description of the tendinous expansion into the muscle may provide insight into better graft-weaving and suture-grasping techniques to maximize proximal graft incorporation. PMID:26665092

  8. Cohesin in determining chromosome architecture

    Energy Technology Data Exchange (ETDEWEB)

    Haering, Christian H., E-mail: christian.haering@embl.de [Cell Biology and Biophysics Unit, European Molecular Biology Laboratory (EMBL), Heidelberg (Germany); Jessberger, Rolf, E-mail: rolf.jessberger@tu-dresden.de [Institute of Physiological Chemistry, Dresden University of Technology, Dresden (Germany)

    2012-07-15

    Cells use ring-like structured protein complexes for various tasks in DNA dynamics. The tripartite cohesin ring is particularly suited to determine chromosome architecture, for it is large and dynamic, may acquire different forms, and is involved in several distinct nuclear processes. This review focuses on cohesin's role in structuring chromosomes during mitotic and meiotic cell divisions and during interphase.

  9. Chromosome choreography: the meiotic ballet.

    Science.gov (United States)

    Page, Scott L; Hawley, R Scott

    2003-08-08

    The separation of homologous chromosomes during meiosis in eukaryotes is the physical basis of Mendelian inheritance. The core of the meiotic process is a specialized nuclear division (meiosis I) in which homologs pair with each other, recombine, and then segregate from each other. The processes of chromosome alignment and pairing allow for homolog recognition. Reciprocal meiotic recombination ensures meiotic chromosome segregation by converting sister chromatid cohesion into mechanisms that hold homologous chromosomes together. Finally, the ability of sister kinetochores to orient to a single pole at metaphase I allows the separation of homologs to two different daughter cells. Failures to properly accomplish this elegant chromosome dance result in aneuploidy, a major cause of miscarriage and birth defects in human beings.

  10. Bacterial chromosome organization and segregation.

    Science.gov (United States)

    Badrinarayanan, Anjana; Le, Tung B K; Laub, Michael T

    2015-01-01

    If fully stretched out, a typical bacterial chromosome would be nearly 1 mm long, approximately 1,000 times the length of a cell. Not only must cells massively compact their genetic material, but they must also organize their DNA in a manner that is compatible with a range of cellular processes, including DNA replication, DNA repair, homologous recombination, and horizontal gene transfer. Recent work, driven in part by technological advances, has begun to reveal the general principles of chromosome organization in bacteria. Here, drawing on studies of many different organisms, we review the emerging picture of how bacterial chromosomes are structured at multiple length scales, highlighting the functions of various DNA-binding proteins and the impact of physical forces. Additionally, we discuss the spatial dynamics of chromosomes, particularly during their segregation to daughter cells. Although there has been tremendous progress, we also highlight gaps that remain in understanding chromosome organization and segregation.

  11. Schizophrenia and chromosomal deletions

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, E.A.; Baldini, A. [Baylor College of Medicine, Houston, TX (United States); Morris, M. A. [Univ. of Geneva School of Medicine, NY (United States)] [and others

    1995-06-01

    Recent genetic linkage analysis studies have suggested the presence of a schizophrenia locus on the chromosomal region 22q11-q13. Schizophrenia has also been frequently observed in patients affected with velo-cardio-facial syndrome (VCFS), a disorder frequently associated with deletions within 22q11.1. It has been hypothesized that psychosis in VCFS may be due to deletion of the catechol-o-methyl transferase gene. Prompted by these observations, we screened for 22q11 deletions in a population of 100 schizophrenics selected from the Maryland Epidemiological Sample. Our results show that there are schizophrenic patients carrying a deletion of 22q11.1 and a mild VCFS phenotype that might remain unrecognized. These findings should encourage a search for a schizophrenia-susceptibility gene within the deleted region and alert those in clinical practice to the possible presence of a mild VCFS phenotype associated with schizophrenia. 9 refs.

  12. Genetics Home Reference: Y chromosome infertility

    Science.gov (United States)

    ... Home Health Conditions Y chromosome infertility Y chromosome infertility Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Y chromosome infertility is a condition that affects the production of ...

  13. Molecular cytogenetic characterization of Rumex papillaris, a dioecious plant with an XX/XY(1)Y (2) sex chromosome system.

    Science.gov (United States)

    Navajas-Pérez, Rafael; Schwarzacher, Trude; Rejón, Manuel Ruiz; Garrido-Ramos, Manuel A

    2009-01-01

    Rumex papillaris Boiss, & Reut., an Iberian endemic, belongs to the section Acetosa of the genus Rumex whose main representative is R. acetosa L., a species intensively studied in relation to sex-chromosome evolution. Here, we characterize cytogenetically the chromosomal complement of R. papillaris in an effort to enhance future comparative genomic approaches and to better our understanding of sex chromosome structure in plants. Rumex papillaris, as is common in this group, is a dioecious species characterized by the presence of a multiple sex chromosome system (with females 2n = 12 + XX and males 2n = 12 + XY(1)Y(2)). Except for the X chromosome both Y chromosomes are the longest in the karyotype and appear heterochromatic due to the accumulation of at least two satellite DNA families, RAE180 and RAYSI. Each chromosome of pair VI has an additional major heterochromatin block at the distal region of the short arm. These supernumerary heterochromatic blocks are occupied by RAE730 satellite DNA family. The Y-related RAE180 family is also present in an additional minor autosomal locus. Our comparative study of the chromosomal organization of the different satellite-DNA sequences in XX/XY and XX/XY(1)Y(2) Rumex species demonstrates that of active mechanisms of heterochromatin amplification occurred and were accompanied by chromosomal rearrangements giving rise to the multiple XX/XY(1)Y(2) chromosome systems observed in Rumex. Additionally, Y(1) and Y(2) chromosomes have undergone further rearrangements leading to differential patterns of Y-heterochromatin distribution between Rumex species with multiple sex chromosome systems.

  14. Generation of chicken Z-chromosome painting probes by microdissection for screening large-insert genomic libraries.

    Science.gov (United States)

    Zimmer, R; King, W A; Verrinder Gibbins, A M

    1997-01-01

    A strategy for rapid generation of chicken sex chromosome-Z painting probes has been developed using microdissection. Whole chromosome painting probes (WCPs) were prepared from 10-15 copies of mitotic metaphase chicken Z chromosomes. The microisolated chromosomes were subjected to PEG/proteinase K treatment in a collection drop to release DNA, which was then amplified using a degenerate oligonucleotide-primed shuttle PCR (DOP-Shuttle-PCR) strategy. Size distributions of the PCR products were analyzed by agarose gel electrophoresis and smears of DNA were revealed that ranged in size from 200-800 bp, without any evidence of preferential amplification. Both specificity and complexity of the probes have been analyzed by Southern blot and fluorescence in situ hybridization (FISH). Non-specific hybridization was efficiently blocked by using chicken competitor DNA. Analysis of the WCPs produced shows that collectively they provide uniform hybridization signals along the entire length of the chicken Z chromosome. To demonstrate one possible application of these complex probes, we screened a large-insert bacterial artificial chromosome (BAC) chicken genomic library to select Z chromosome-specific clones. To address specificity of the selected clones and to physically map them to the Z chromosome, FISH analysis was used. Of the 3 clones initially tested, one clone (C3) carrying a 250-kb insert mapped to the distal portion of the short arm of the chicken Z chromosome. Therefore, this technique has provided appropriate probes for screening large-insert genomic libraries. Further application of these probes includes the analysis of chromosome rearrangements, studies of cases of heteroploidy involving the Z chromosome, positional cloning of Z-linked genes and studies on mechanisms of sex-chromosome evolution in birds.

  15. Fertility of CMS wheat is restored by two Rf loci located on a recombined acrocentric chromosome.

    Science.gov (United States)

    Castillo, Almudena; Atienza, Sergio G; Martín, Azahara C

    2014-12-01

    Cytoplasmic male sterility (CMS) results from incompatibility between nuclear and cytoplasmic genomes, and is characterized by the inability to produce viable pollen. The restoration of male fertility generally involves the introgression of nuclear genes, termed restorers of fertility (Rf). CMS has been widely used for hybrid seed production in many crops but not in wheat, partly owing to the complex genetics of fertility restoration. In this study, an acrocentric chromosome that restores pollen fertility of CMS wheat in Hordeum chilense cytoplasm (msH1 system) is studied. The results show that this chromosome, of H. chilense origin and named H(ch)ac, originated from a complex reorganization of the short arm of chromosomes 1H(ch) (1H(ch)S) and 6H(ch) (6H(ch)S). Diversity arrays technology (DArT) markers and cytological analysis indicate that H(ch)ac is a kind of `zebra-like' chromosome composed of chromosome 1H(ch)S and alternate fragments of interstitial and distal regions of chromosome 6H(ch)S. PCR-based markers together with FISH, GISH, and meiotic pairing analysis support this result. A restorer of fertility gene, named Rf6H(ch)S, has been identified on the short arm of chromosome 6H(ch)S. Moreover, restoration by the addition of chromosome 1H(ch)S has been observed at a very low frequency and under certain environmental conditions. Therefore, the results indicate the presence of two Rf genes on the acrocentric chromosome: Rf6H(ch)S and Rf1H(ch)S, the restoration potential of Rf6H(ch)S being greater. The stable and high restoration of pollen fertility in the msH1 system is therefore the result of the interaction between these two restorer genes.

  16. Mitotic chromosome condensation in vertebrates

    Energy Technology Data Exchange (ETDEWEB)

    Vagnarelli, Paola, E-mail: P.Vagnarelli@ed.ac.uk

    2012-07-15

    Work from several laboratories over the past 10-15 years has revealed that, within the interphase nucleus, chromosomes are organized into spatially distinct territories [T. Cremer, C. Cremer, Chromosome territories, nuclear architecture and gene regulation in mammalian cells, Nat. Rev. Genet. 2 (2001) 292-301 and T. Cremer, M. Cremer, S. Dietzel, S. Muller, I. Solovei, S. Fakan, Chromosome territories-a functional nuclear landscape, Curr. Opin. Cell Biol. 18 (2006) 307-316]. The overall compaction level and intranuclear location varies as a function of gene density for both entire chromosomes [J.A. Croft, J.M. Bridger, S. Boyle, P. Perry, P. Teague,W.A. Bickmore, Differences in the localization and morphology of chromosomes in the human nucleus, J. Cell Biol. 145 (1999) 1119-1131] and specific chromosomal regions [N.L. Mahy, P.E. Perry, S. Gilchrist, R.A. Baldock, W.A. Bickmore, Spatial organization of active and inactive genes and noncoding DNA within chromosome territories, J. Cell Biol. 157 (2002) 579-589] (Fig. 1A, A'). In prophase, when cyclin B activity reaches a high threshold, chromosome condensation occurs followed by Nuclear Envelope Breakdown (NEB) [1]. At this point vertebrate chromosomes appear as compact structures harboring an attachment point for the spindle microtubules physically recognizable as a primary constriction where the two sister chromatids are held together. The transition from an unshaped interphase chromosome to the highly structured mitotic chromosome (compare Figs. 1A and B) has fascinated researchers for several decades now; however a definite picture of how this process is achieved and regulated is not yet in our hands and it will require more investigation to comprehend the complete process. From a biochemical point of view a vertebrate mitotic chromosomes is composed of DNA, histone proteins (60%) and non-histone proteins (40%) [6]. I will discuss below what is known to date on the contribution of these two different classes

  17. Chromatid Painting for Chromosomal Inversion Detection Project

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose the continued development of a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and...

  18. Chromatid Painting for Chromosomal Inversion Detection Project

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and inversions) have profound genetic...

  19. CHROMOSOMAL MAPPING IN STRAINS OF STAPHYLOCOCCUS AUREUS,

    Science.gov (United States)

    STAPHYLOCOCCUS AUREUS , CHROMOSOMES), (*CHROMOSOMES, MAPPING), NITROSO COMPOUNDS, GUANIDINES, GENETICS, MUTATIONS, DRUGS, TOLERANCES(PHYSIOLOGY), TEST METHODS, DEOXYRIBONUCLEIC ACIDS, INHIBITION, RESISTANCE(BIOLOGY).

  20. Unilateral maxillary molar distalization with zygoma-gear appliance.

    Science.gov (United States)

    Kilkis, Dogan; Bayram, Mehmet; Celikoglu, Mevlut; Nur, Metin

    2012-08-01

    The aim of this study was to present the orthodontic treatment of a 15-year-old boy with a unilateral maxillary molar distalization system, called the zygoma-gear appliance. It consisted of a zygomatic anchorage miniplate, an inner bow, and a Sentalloy closed coil spring (GAC International, Bohemia, NY). A distalizing force of 350 g was used during the distalization period. The unilateral Class II malocclusion was corrected in 5 months with the zygoma-gear appliance. The maxillary left first molar showed distalization of 4 mm with an inclination of 3°. The maxillary premolars moved distally with the help of the transseptal fibers. In addition, there were slight decreases in overjet (-0.5 mm) and maxillary incisor inclination (-1°), indicating no anchorage loss from the zygoma-gear appliance. Preadjusted fixed appliances (0.022 × 0.028-in, MBT system; 3M Unitek, Monrovia, Calif) were placed in both arches to achieve leveling and alignment. After 14 months of unilateral distalization with the zygoma-gear appliance and fixed appliances, Class I molar and canine relationships were established with satisfactory interdigitation of the posterior teeth. Acceptable overjet and overbite were also achieved. This article shows that this new system, the zygoma-gear appliance, can be used for unilateral maxillary molar distalization without anchorage loss.

  1. Tratamento cirúrgico da tendinite distal da patela Surgical treatment of the distal patellar tendinitis

    Directory of Open Access Journals (Sweden)

    Marco Martins Amatuzzi

    2005-01-01

    Full Text Available A tendinite distal da patela é uma doença que acomete principalmente jovens esportistas e caracteriza-se por dor referida na extremidade distal da patela junto à inserção do ligamento patelar. O tratamento inicial preconizado é sempre conservador com fisioterapia. A grande maioria tem boa resposta a este tipo de conduta, mas em alguns raros casos os sintomas não regridem exigindo uma mudança de conduta. Para este grupo usamos o tratamento cirúrgico com técnica derivada de Trillat que se baseia na utilização de um enxerto de parte do tendão do músculo Grácil implantado dentro do ligamento patelar, inserido intra-ósseo na patela e fixado na tuberosidade anterior da tíbia. Foram operados seis pacientes, sendo que em dois casos a operação foi bilateral, totalizando oito joelhos. O seguimento mínimo foi de três anos, com avaliação final dentro do índice considerado como EXCELENTE, conforme a cotação ARPÉGE, para todos os joelhos.Distal patellar tendinitis is a young athlete's disease characterized by pain at the distal patellar pole, near the patellar ligament insertion. Early treatment recommended is generally conservative, with physical therapy. The great majority of patients present favorable responses to this approach, but, in some cases, the remission of symptoms does not occur, requiring a different approach. For this group, surgical treatment with a technique derived from that of Trillat was used, which is based on the use of a graft removed from a portion of gracillis muscle tendon into patellar ligament, intraosseously inserted in the patella and fixed at the tibial anterior tuberosity. Six patients were operated, bilaterally in two cases, totaling eight knees. The minimum follow-up time was three years, with all knees presenting an EXCELLENT score, according to ARPÉGE evaluation.

  2. Deletion of chromosome 21 in a girl with congenital hypothyroidism and mild mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Ahlbom, B.E.; Anneren, G. [Univ. Hospital, Uppsala (Sweden); Sidenvall, R. [Central Hospital of Hudiksvall (Sweden)

    1996-08-23

    We report on a girl with a large interstitial deletion of the long arm of chromosome 21 and with mild mental retardation, congenital hypothyroidism, and hyperopia. The deletion [del(21)(q11.1-q22.1)] extends molecularly from marker D21S215 to D21S213. The distal breakpoint is not clearly defined but is situated between markers D21S213 and IFNAR. This patient has the largest deletion of chromosome 21 known without having severe mental retardation or malformations. The deletion does not involve the {open_quotes}Down syndrome chromosome{close_quotes} region, the region of chromosome 21 which in trisomy causes most of the manifestations of Down syndrome. Apparently, the proximal part of the long arm of chromosome 21 does not include genes that are responsible for severe clinical effects in the event of either deletion or duplication, since several reported patients with either trisomy or deletion of this region have mild phenotypic abnormalities. Congenital hypothyroidism is much more common in Down syndrome than in the average population. Thus, the congenital hypothyroidism of the present patient might indicate that there is one or several genes on the proximal part of chromosome 21, which might be of importance for the thyroid function. 24 refs., 4 figs., 2 tabs.

  3. Frequent gene conversion events between the X and Y homologous chromosomal regions in primates

    Directory of Open Access Journals (Sweden)

    Hirai Hirohisa

    2010-07-01

    Full Text Available Abstract Background Mammalian sex-chromosomes originated from a pair of autosomes. A step-wise cessation of recombination is necessary for the proper maintenance of sex-determination and, consequently, generates a four strata structure on the X chromosome. Each stratum shows a specific per-site nucleotide sequence difference (p-distance between the X and Y chromosomes, depending on the time of recombination arrest. Stratum 4 covers the distal half of the human X chromosome short arm and the p-distance of the stratum is ~10%, on average. However, a 100-kb region, which includes KALX and VCX, in the middle of stratum 4 shows a significantly lower p-distance (1-5%, suggesting frequent sequence exchanges or gene conversions between the X and Y chromosomes in humans. To examine the evolutionary mechanism for this low p-distance region, sequences of a corresponding region including KALX/Y from seven species of non-human primates were analyzed. Results Phylogenetic analysis of this low p-distance region in humans and non-human primate species revealed that gene conversion like events have taken place at least ten times after the divergence of New World monkeys and Catarrhini (i.e., Old World monkeys and hominoids. A KALY-converted KALX allele in white-handed gibbons also suggests a possible recent gene conversion between the X and Y chromosomes. In these primate sequences, the proximal boundary of this low p-distance region is located in a LINE element shared between the X and Y chromosomes, suggesting the involvement of this element in frequent gene conversions. Together with a palindrome on the Y chromosome, a segmental palindrome structure on the X chromosome at the distal boundary near VCX, in humans and chimpanzees, may mediate frequent sequence exchanges between X and Y chromosomes. Conclusion Gene conversion events between the X and Y homologous regions have been suggested, mainly in humans. Here, we found frequent gene conversions in the

  4. Differing requirements for RAD51 and DMC1 in meiotic pairing of centromeres and chromosome arms in Arabidopsis thaliana.

    Directory of Open Access Journals (Sweden)

    Olivier Da Ines

    Full Text Available During meiosis homologous chromosomes pair, recombine, and synapse, thus ensuring accurate chromosome segregation and the halving of ploidy necessary for gametogenesis. The processes permitting a chromosome to pair only with its homologue are not fully understood, but successful pairing of homologous chromosomes is tightly linked to recombination. In Arabidopsis thaliana, meiotic prophase of rad51, xrcc3, and rad51C mutants appears normal up to the zygotene/pachytene stage, after which the genome fragments, leading to sterility. To better understand the relationship between recombination and chromosome pairing, we have analysed meiotic chromosome pairing in these and in dmc1 mutant lines. Our data show a differing requirement for these proteins in pairing of centromeric regions and chromosome arms. No homologous pairing of mid-arm or distal regions was observed in rad51, xrcc3, and rad51C mutants. However, homologous centromeres do pair in these mutants and we show that this does depend upon recombination, principally on DMC1. This centromere pairing extends well beyond the heterochromatic centromere region and, surprisingly, does not require XRCC3 and RAD51C. In addition to clarifying and bringing the roles of centromeres in meiotic synapsis to the fore, this analysis thus separates the roles in meiotic synapsis of DMC1 and RAD51 and the meiotic RAD51 paralogs, XRCC3 and RAD51C, with respect to different chromosome domains.

  5. Distal Fibula Fractures in National Football League Athletes

    Science.gov (United States)

    Werner, Brian C.; Mack, Christina; Franke, Kristina; Barnes, Ronnie P.; Warren, Russell F.; Rodeo, Scott A.

    2017-01-01

    Background: Despite the frequency of distal fibula fractures in elite athletes and the significant potential impact on the athletes’ season and future careers, little data exist characterizing the epidemiology of these injuries or, more importantly, return to competition. Purpose: To (1) evaluate the incidence of acute distal fibula fractures in National Football League (NFL) athletes, including isolated distal fibula and combined ankle fracture patterns; (2) analyze distal fibula fracture rates in NFL athletes by position, type of play, and contact type; (3) determine the rates of distal fibula fracture surgery in NFL athletes; and (4) report the days missed due to distal fibula fractures in NFL athletes. Study Design: Descriptive epidemiology study. Methods: A retrospective review of distal fibula fractures reported to the NFL from 2000 to 2014 was performed using the NFL Injury Surveillance System. All distal fibula fractures were included, along with isolated and combined fracture patterns. Stress fractures and proximal fibula fractures were excluded. Epidemiological data and rates of surgery were determined. Return to sport was calculated and stratified by injury pattern and management. Results: Overall, 237 distal fibula fractures in NFL athletes from 2000 to 2014 were included; 197 (83%) were isolated distal fibula fractures. A mean of 16 distal fibula fractures occurred each year (median, 16 per year). Fractures occurred most frequently on running (38%) and passing (24%) plays, but the frequency was next highest on kickoffs (16%), despite the relative infrequency of kickoffs during the average game compared with other play types. Surgery was reported for more than half of all distal fibula fractures (n = 128, 54%). Overall, patients who underwent surgery missed significantly more days (mean, 123.8 days) than players who did not undergo surgery (mean, 75.3 days) (P NFL athletes and result in significant time missed from competition. Further research is

  6. Distal Fibula Fractures in National Football League Athletes.

    Science.gov (United States)

    Werner, Brian C; Mack, Christina; Franke, Kristina; Barnes, Ronnie P; Warren, Russell F; Rodeo, Scott A

    2017-09-01

    Despite the frequency of distal fibula fractures in elite athletes and the significant potential impact on the athletes' season and future careers, little data exist characterizing the epidemiology of these injuries or, more importantly, return to competition. To (1) evaluate the incidence of acute distal fibula fractures in National Football League (NFL) athletes, including isolated distal fibula and combined ankle fracture patterns; (2) analyze distal fibula fracture rates in NFL athletes by position, type of play, and contact type; (3) determine the rates of distal fibula fracture surgery in NFL athletes; and (4) report the days missed due to distal fibula fractures in NFL athletes. Descriptive epidemiology study. A retrospective review of distal fibula fractures reported to the NFL from 2000 to 2014 was performed using the NFL Injury Surveillance System. All distal fibula fractures were included, along with isolated and combined fracture patterns. Stress fractures and proximal fibula fractures were excluded. Epidemiological data and rates of surgery were determined. Return to sport was calculated and stratified by injury pattern and management. Overall, 237 distal fibula fractures in NFL athletes from 2000 to 2014 were included; 197 (83%) were isolated distal fibula fractures. A mean of 16 distal fibula fractures occurred each year (median, 16 per year). Fractures occurred most frequently on running (38%) and passing (24%) plays, but the frequency was next highest on kickoffs (16%), despite the relative infrequency of kickoffs during the average game compared with other play types. Surgery was reported for more than half of all distal fibula fractures (n = 128, 54%). Overall, patients who underwent surgery missed significantly more days (mean, 123.8 days) than players who did not undergo surgery (mean, 75.3 days) (P NFL athletes and result in significant time missed from competition. Further research is required to determine the optimal management of fibula

  7. Intra-Articular Osteotomy for Distal Humerus Malunion

    Directory of Open Access Journals (Sweden)

    René K. Marti

    2009-01-01

    Full Text Available Intra-articular osteotomy is considered in the rare case of malunion after a fracture of the distal humerus to restore humeral alignment and gain a functional arc of elbow motion. Traumatic and iatrogenic disruption of the limited blood flow to the distal end of the humerus resulting in avascular necrosis of capitellum or trochlea is a major pitfall of the this technically challenging procedure. Two cases are presented which illustrate the potential problems of intra-articular osteotomy for malunion of the distal humerus.

  8. An Asian perspective on the management of distal radius fractures.

    Science.gov (United States)

    Sebastin, Sandeep J; Chung, Kevin C

    2012-05-01

    There is limited data regarding the epidemiology, pathology, and management of distal radius fractures from centers in Asia. The advanced economies in Asia include Hong Kong, Japan, Korea, Singapore, and Taiwan, whereas the prominent emerging economies are China, India, Malaysia, Philippines, and Thailand. This article examines the available epidemiological data from Asia, compares the management of distal radius fractures in the advanced and emerging Asian economies and how they compare with the current management in the west. It concludes by offering solutions for improving outcomes of distal radius fractures in Asia.

  9. An alternative method of osteosynthesis for distal humeral shaft fractures.

    Science.gov (United States)

    Levy, Jonathan C; Kalandiak, Steven P; Hutson, James J; Zych, Gregory

    2005-01-01

    Treatment of extra-articular distal humerus shaft fractures with plating techniques is often difficult, as traditional centrally located posterior plates often encroach on the olecranon fossa, limiting distal osseous fixation. The use of a modified Synthes Lateral Tibial Head Buttress Plate (Synthes, Paoli, PA) allows for a centrally placed posterior plating of the humeral shaft that angles anatomically along the lateral column to treat far distal humeral shaft fractures. Fifteen patients treated in this manner were followed to radiographic and clinical union. There were no cases of instrumentation failure or loss of reduction.

  10. Fracture of the distal radius: epidemiology and premanagement radiographic characterization.

    Science.gov (United States)

    Porrino, Jack A; Maloney, Ezekiel; Scherer, Kurt; Mulcahy, Hyojeong; Ha, Alice S; Allan, Christopher

    2014-09-01

    Fractures of the distal radius are common and frequently encountered by the radiologist. We review the epidemiology, classification, as well as the concept of instability. Salient qualitative and quantitative features of the distal radius fracture identifiable on the routine radiography series are highlighted. We conclude with a synopsis of descriptors that are of greatest utility to the clinician for treatment planning and that should be addressed in the radiology report. A detailed understanding of the intricacies of the distal radius fracture is necessary for the radiologist to provide a clinically relevant description.

  11. A ring chromosome X in a child with features of Kabuki Make-up syndrome

    Energy Technology Data Exchange (ETDEWEB)

    McGinniss, M.J.; Spring, N.; Brown, D.H. [Children`s Hospital, San Diego, CA (United States)] [and others

    1994-09-01

    The clinical features of this female patient (severe developmental delay, prominent finger pads, long palpebral fissures, short stature and history of hypotonia) suggested a diagnosis of Kabuki Make-up syndrome (KMS). Cytogenetic analyses showed this patient had a small ring X chromosome in 83% of cells and the parents were karyotypically normal. We hypothesized that deletion or rearrangement of X chromosome-derived sequences might be associated with the KMS-like phenotype observed in this patient. The breakpoints and parental origin of this small ring X were ascertained using a combination of genotyping with highly informative STRs and quantitative Southern blotting. PCR-based genotyping showed this female patient was heterozygous for X-linked loci SBMA (Xq11-q12) and DXS227 (Xq13.1). Hemizygosity was observed at several loci: DMD STR-49 (Xp21.2), DXS101 (Xq21.3), FMR-1 (Xq27.3) and DXYS64 (Xq28). Genotyping results at MIC2 (Xp22.3) and DXYS156 were not informative. These molecular genetic data indicate a large deletion of the distal long arm of the X chromosome and suggest a partial deletion of the distal short arm consistent with a small ring X chromosome with breakpoints near p21.2 and q13.1. This ring X chromosome is paternally-derived based on the observation that only the maternal alleles are inherited at three loci: (DMD STR-49, DXS101, and FMR-1). Studies to determine if the XIST gene at Xq13.3 is present and functioning on the ring chromosome are underway.

  12. Gametocidal chromosomes enhancing chromosome aberration in common wheat induced by 5-azacytidine.

    Science.gov (United States)

    Su, W-Y; Cong, W-W; Shu, Y-J; Wang, D; Xu, G-H; Guo, C-H

    2013-07-08

    The gametocidal (Gc) chromosome from Aegilops spp induces chromosome mutation, which is introduced into common wheat as a tool of chromosome manipulation for genetic improvement. The Gc chromosome functions similar to a restriction-modification system in bacteria, in which DNA methylation is an important regulator. We treated root tips of wheat carrying Gc chromosomes with the hypomethylation agent 5-azacytidine; chromosome breakage and micronuclei were observed in these root tips. The frequency of aberrations differed in wheat containing different Gc chromosomes, suggesting different functions inducing chromosome breakage. Gc chromosome 3C caused the greatest degree of chromosome aberration, while Gc chromosome 3C(SAT) and 2C caused only slight chromosome aberration. Gc chromosome 3C induced different degrees of chromosome aberration in wheat varieties Triticum aestivum var. Chinese Spring and Norin 26, demonstrating an inhibition function in common wheat.

  13. Chromosome segregation in Vibrio cholerae.

    Science.gov (United States)

    Ramachandran, Revathy; Jha, Jyoti; Chattoraj, Dhruba K

    2014-01-01

    The study of chromosome segregation is currently one of the most exciting research frontiers in cell biology. In this review, we discuss our current knowledge of the chromosome segregation process in Vibrio cholerae, based primarily on findings from fluorescence microscopy experiments. This bacterium is of special interest because of its eukaryotic feature of having a divided genome, a feature shared with 10% of known bacteria. We also discuss how the segregation mechanisms of V. cholerae compare with those in other bacteria, and highlight some of the remaining questions regarding the process of bacterial chromosome segregation.

  14. Localization of introduced genes on the chromosomes of transgenic barley, wheat and triticale by fluorescence in situ hybridization

    DEFF Research Database (Denmark)

    Pedersen, C.; Zimny, J.; Becker, D.

    1997-01-01

    transformant showed a totally different integration pattern. Southern analysis confirmed that the inserted genes were segregating independently, resulting in different integration patterns among the progeny lines. The application of the FISH technique for the analysis of transgenic plants is discussed.......Using fluorescence in situ hybridization (FISH) we localized introduced genes on metaphase chromosomes of barley, wheat, and triticale transformed by microprojectile bombardment of microspores and scutellar tissue with the pDB1 plasmid containing the uidA and bar genes. Thirteen integration sites...... of single-copy integrations. There was a slight tendency towards the localization of transgenes in distal chromosome regions. Using the GAA-satellite sequence for chromosome banding, the chromosomes containing the inserted genes were identified in most cases. Two barley lines derived from the same...

  15. Numerous transitions of sex chromosomes in Diptera.

    Science.gov (United States)

    Vicoso, Beatriz; Bachtrog, Doris

    2015-04-01

    Many species groups, including mammals and many insects, determine sex using heteromorphic sex chromosomes. Diptera flies, which include the model Drosophila melanogaster, generally have XY sex chromosomes and a conserved karyotype consisting of six chromosomal arms (five large rods and a small dot), but superficially similar karyotypes may conceal the true extent of sex chromosome variation. Here, we use whole-genome analysis in 37 fly species belonging to 22 different families of Diptera and uncover tremendous hidden diversity in sex chromosome karyotypes among flies. We identify over a dozen different sex chromosome configurations, and the small dot chromosome is repeatedly used as the sex chromosome, which presumably reflects the ancestral karyotype of higher Diptera. However, we identify species with undifferentiated sex chromosomes, others in which a different chromosome replaced the dot as a sex chromosome or in which up to three chromosomal elements became incorporated into the sex chromosomes, and others yet with female heterogamety (ZW sex chromosomes). Transcriptome analysis shows that dosage compensation has evolved multiple times in flies, consistently through up-regulation of the single X in males. However, X chromosomes generally show a deficiency of genes with male-biased expression, possibly reflecting sex-specific selective pressures. These species thus provide a rich resource to study sex chromosome biology in a comparative manner and show that similar selective forces have shaped the unique evolution of sex chromosomes in diverse fly taxa.

  16. Numerous transitions of sex chromosomes in Diptera.

    Directory of Open Access Journals (Sweden)

    Beatriz Vicoso

    2015-04-01

    Full Text Available Many species groups, including mammals and many insects, determine sex using heteromorphic sex chromosomes. Diptera flies, which include the model Drosophila melanogaster, generally have XY sex chromosomes and a conserved karyotype consisting of six chromosomal arms (five large rods and a small dot, but superficially similar karyotypes may conceal the true extent of sex chromosome variation. Here, we use whole-genome analysis in 37 fly species belonging to 22 different families of Diptera and uncover tremendous hidden diversity in sex chromosome karyotypes among flies. We identify over a dozen different sex chromosome configurations, and the small dot chromosome is repeatedly used as the sex chromosome, which presumably reflects the ancestral karyotype of higher Diptera. However, we identify species with undifferentiated sex chromosomes, others in which a different chromosome replaced the dot as a sex chromosome or in which up to three chromosomal elements became incorporated into the sex chromosomes, and others yet with female heterogamety (ZW sex chromosomes. Transcriptome analysis shows that dosage compensation has evolved multiple times in flies, consistently through up-regulation of the single X in males. However, X chromosomes generally show a deficiency of genes with male-biased expression, possibly reflecting sex-specific selective pressures. These species thus provide a rich resource to study sex chromosome biology in a comparative manner and show that similar selective forces have shaped the unique evolution of sex chromosomes in diverse fly taxa.

  17. Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2

    Energy Technology Data Exchange (ETDEWEB)

    Saal, H.M. [Children`s Hospital Medical Center, Cincinnati, OH (United States); Johnson, R.C.; Carr, A.G.; Samango-Sprouse, C. [George Washington Univ. School of Medicine, Washington, DC (United States)] [and others

    1996-12-30

    To our knowledge, only four previous cases of distal chromosome 2p deletions exist in the literature. We present a patient with minor facial anomalies who had a distal interstitial deletion of the short arm of chromosome 2, del(2)(p24.2p25.1). This patient had many features seen in other patients with distal 2p deletion including short stature, {open_quotes}rectangular{close_quotes} facies, microcephaly, hypotonia, and mental retardation. This patient also has sensorineural hearing loss which has been described in one other patient with a similar deletion. The N-myc oncogene has been mapped to 2p24. By fluorescence in situ hybridization using a cDNA probe for the N-myc oncogene, this patient was found to have a deletion of the N-myc oncogene. This confirms the previous map location for N-myc. 17 refs., 3 figs., 1 tab.

  18. Minimally invasive percutaneous plate fixation of distal tibia fractures.

    LENUS (Irish Health Repository)

    Bahari, Syah

    2007-10-01

    We report a series of 42 patients reviewed at a mean of 19.6 months after treatment of distal tibial and pilon fractures using the AO distal tibia locking plate with a minimally invasive percutaneous plate osteosynthesis (MIPPO) technique. Mean time to union was 22.4 weeks. All fractures united with acceptable alignment and angulation. Two cases of superficial infection were noted, with one case of deep infection. Mean SF36 score was 85 and mean AOFAS score was 90 at a mean of 19 months follow-up. We report satisfactory outcomes with the use of the AO distal tibia locking plate in treatment of unstable distal tibial fractures. Eighty-nine percent of the patients felt that they were back to their pre injury status and 95% back to their previous employment.

  19. Distal femoral osteotomy using a novel deformity reduction device.

    Science.gov (United States)

    Panichi, Enrico; Cappellari, Fulvio; Olimpo, Matteo; Piras, Lisa A; Radasch, Robert; Ferretti, Antonio; Peirone, Bruno

    2016-09-20

    Distal femoral osteotomy is a surgical procedure used to correct patellar luxation, secondary to a femoral deformity. A distal femoral osteotomy using the tibial plateau levelling osteotomy-jig to temporarily provide stability of the distal femoral osteotomy, maintaining limb alignment in the frontal and axial planes prior to internal plate fixation of the osteotomy, has been described. This report describes a novel jig named Deformity Reduction Device (DRD). This device was developed with the specific aim of increasing precision and predictability during corrective osteotomy execution in order to be consistent with the preoperative planning. The distal femoral osteotomy DRD-assisted procedure is described in detail, discussing the theoretical and practical principles of the application.

  20. Distal coronary hemoperfusion during percutaneous transluminal coronary angioplasty

    NARCIS (Netherlands)

    deMuinck, ED; denHeijer, P; vanDijk, RB; Crijns, HJGM; Hillige, HL; Lie, KI

    1996-01-01

    Distal coronary hemoperfusion during percutaneous transluminal coronary angioplasty (PTCA)-with an autoperfusion balloon or active system-facilitates prolonged balloon inflation. Prolonged inflations may tack up intimal dissections and improve the primary angioplasty result in complex lesions. Addit

  1. Genetics Home Reference: distal 18q deletion syndrome

    Science.gov (United States)

    ... PDF) Patient Support and Advocacy Resources (7 links) Alexander Graham Bell Association for the Deaf and Hard ... Pliszka SR, Gelfond JA, Hale DE, Cody JD. Mood disorders in individuals with distal 18q deletions. Am ...

  2. Symptomatic Venous Thromboembolism Following Fractures Distal to the Knee

    DEFF Research Database (Denmark)

    Wahlsten, Liv Riisager; Eckardt, Henrik; Lyngbæk, Stig

    2015-01-01

    BACKGROUND: Our aims were to determine the incidence of symptomatic deep venous thrombosis (DVT) and pulmonary embolism (PE) that required inpatient or outpatient treatment, and to identify specific risk factors associated with DVT/PE in patients who had undergone surgery for a fracture distal...... to the knee. METHODS: Using individual linkage of nationwide registries, we included all Danish patients who had undergone surgery for a fracture distal to the knee between 1999 and 2011. Patients were followed for 180 days from discharge. Event rates of DVT/PE were calculated, and significant risk factors...... following surgery for fractures distal to the knee; however, the risk was increased in the presence of a number of risk factors. This study suggests that specific groups of patients undergoing surgery for a fracture distal to the knee might benefit from postdischarge antithrombotic treatment....

  3. Chromosome fragility in Freemartin cattle

    Directory of Open Access Journals (Sweden)

    V. Barbieri

    2010-04-01

    Full Text Available The aim of the present study was to verify chromosome fragility in freemartin cattle using chromosome aberration (CA and sister chromatid exchange (SCE tests. A total of eighteen co-twins were investigated. Fourteen animals were identified as cytogenetically chimeric (2n=60, XX/XY while 4 were classified as normal. Freemartin cattle showed a higher percentage of aneuploid cells (18.64% and highly significant statistical differences (P < 0.001 in mean values of gaps (4.53 ± 2.05, chromatid breaks (0.26 ± 0.51, and significant statistical differences (P < 0.005 in mean values of chromosome breaks (0.12 ± 0.43 when compared to 10 control animals from single births (aneuploid cells, 11.20%; gaps, 2.01 ± 1.42; chromatid breaks, 0.05 ± 0.22; chromosome breaks, 0.02 ± 0.14.

  4. Distal protection devices during percutaneous coronary and carotid interventions

    OpenAIRE

    2001-01-01

    Abstract Distal embolization of particulate matter complicates percutaneous coronary and peripheral interventions more often than had been recognized until recently. A number of distal protection devices are under development. The PercuSurge GuardWire™ is a balloon occlusion thrombectomy device approved by the United States Food and Drug Administration for saphenous vein graft intervention. A number of filter devices utilize an expandable filter mounted on the angioplasty guidewire to facilit...

  5. Distal posterior inferior cerebellar artery aneurysm in a child

    Directory of Open Access Journals (Sweden)

    J. Francisco Salomão

    1992-06-01

    Full Text Available The case of a 7-year-old boy presenting with recurrent episodes of subarachnoid hemorrhage due to a distal posterior inferior cerebellar artery aneurysm (PICA, successfully operated, is reported.' The low incidence of intracranial aneurysms in the first decade of life and the rare occurrence of distal PICA aneurysms are unusual features of this case. The theories regarding the origin of intracranial berry aneurysms are discussed.

  6. Chromosome rearrangements in synovial chondromatous lesions.

    OpenAIRE

    Mertens, F.; Jonsson, K.; Willén, H; Rydholm, A.; Kreicbergs, A.; Eriksson, L; Olsson-Sandin, G.; Mitelman, F.; Mandahl, N

    1996-01-01

    Short-term cultures from one synovial chondroma and three cases of synovial chondromatosis, a lesion for which no previous karyotypic information exists, were cytogenetically analysed. Whereas the chondroma displayed the relatively simple karyotype 46,XY,add(12)(q13),der(17)t(12;17)(q13;q21), more complex changes were found in the three cases of chondromatosis: case 1, 47,XY,der(1)inv(1)(p13q25)del (1)(q25q32), t(1;12)(q25;q13), + 5,der(12)add(12)(p11)t(1;12)(p22;q13); case 2, 47,XY,add(10)(q...

  7. Chromosome Segregation in Vibrio cholerae

    OpenAIRE

    Ramachandran, R.; Jha, J.; Chattoraj, DK

    2014-01-01

    The study of chromosome segregation is currently one of the most exciting research frontiers in cell biology. In this review, we discuss our current knowledge of the chromosome segregation process in Vibrio cholerae, based primarily on findings from fluorescence microscopy experiments. This bacterium is of special interest because of its eukaryotic feature of having a divided genome, a feature shared with 10% of known bacteria. We also discuss how the segregation mechanisms of V. cholerae com...

  8. B chromosomes and sex in animals.

    Science.gov (United States)

    Camacho, J P M; Schmid, M; Cabrero, J

    2011-01-01

    Supernumerary (B) chromosomes are dispensable elements found in many eukaryote genomes in addition to standard (A) chromosomes. In many respects, B chromosomes resemble sex chromosomes, so that a common ancestry for them has frequently been suggested. For instance, B chromosomes in grasshoppers, and other insects, show a pycnotic cycle of condensation-decondensation during meiosis remarkably similar to that of the X chromosome. In some cases, B chromosome size is even very similar to that of the X chromosome. These resemblances have led to suggest the X as the B ancestor in many cases. In addition, sex chromosome origin from B chromosomes has also been suggested. In this article, we review the existing evidence for both evolutionary pathways, as well as sex differences for B frequency at adult and embryo progeny levels, B chromosome effects or B chromosome transmission. In addition, we review cases found in the literature showing sex-ratio distortion associated with B chromosome presence, the most extreme case being the paternal sex ratio (PSR) chromosomes in some Hymenoptera. We finally analyse the possibility of B chromosome regularisation within the host genome and, as a consequence of it, whether B chromosomes can become regular members of the host genome.

  9. Origin and domestication of papaya Yh chromosome

    Science.gov (United States)

    Sex in papaya is controlled by a pair of nascent sex chromosomes. Females are XX, and two slightly different Y chromosomes distinguish males (XY) and hermaphrodites (XYh). The hermaphrodite-specific region of the Yh chromosome (HSY) and its X chromosome counterpart were sequenced and analyzed previo...

  10. Primary ciliogenesis requires the distal appendage component Cep123

    Directory of Open Access Journals (Sweden)

    James E. Sillibourne

    2013-04-01

    Primary cilium formation is initiated at the distal end of the mother centriole in a highly co-ordinated manner. This requires the capping of the distal end of the mother centriole with a ciliary vesicle and the anchoring of the basal body (mother centriole to the cell cortex, both of which are mediated by the distal appendages. Here, we show that the distal appendage protein Cep123 (Cep89/CCDC123 is required for the assembly, but not the maintenance, of a primary cilium. In the absence of Cep123 ciliary vesicle formation fails, suggesting that it functions in the early stages of primary ciliogenesis. Consistent with such a role, Cep123 interacts with the centriolar satellite proteins PCM-1, Cep290 and OFD1, all of which play a role in primary ciliogenesis. These interactions are mediated by a domain in the C-terminus of Cep123 (400–783 that overlaps the distal appendage-targeting domain (500–600. Together, the data implicate Cep123 as a new player in the primary ciliogenesis pathway and expand upon the role of the distal appendages in this process.

  11. [Epidemiology and management of isolated distal deep venous thrombosis].

    Science.gov (United States)

    Galanaud, J-P; Kahn, S R; Khau Van Kien, A; Laroche, J-P; Quéré, I

    2012-12-01

    Isolated distal deep-vein thromboses (DVT) are infra-popliteal DVT without involvement of proximal veins or pulmonary embolism (PE). They can affect deep calf (tibial anterior, tibial posterior, or peroneal) or muscular (gastrocnemius or soleal) veins. They represent half of all lower limbs DVT. Proximal and distal DVTs differ in terms of risk factor profile, proximal DVT being more frequently associated with chronic risk factors and distal DVT with transient ones. Their natural history (rate of spontaneous proximal extension) is debated leading to uncertainties on the need to diagnose and treat them with anticoagulant drugs. In the long term, the risk of venous thromboembolic recurrence is lower than that of proximal DVT and their absolute risk of post-thrombotic syndrome is unknown. French national guidelines suggest treating with anticoagulants for 6 weeks a first episode of isolated distal DVT provoked by a transient risk factor and treating for at least 3 months unprovoked or recurrent or active cancer-related distal DVT. The use of compression stockings use is suggested in case of deep calf vein thrombosis. Ongoing therapeutic trials should provide important data necessary to establish an evidence-based mode of care, especially about the need to treat distal DVT at low risk of extension with anticoagulants.

  12. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  13. Duplication and loss of chromosome 21 in two children with Down Syndrome and acute leukemia

    Energy Technology Data Exchange (ETDEWEB)

    Rogan, P.K.; Close, P.; Seip, J.R. [Pennsylvania State Univ. College of Medicine, Hershey, PA (United States)] [and others

    1994-09-01

    Acute leukemia in patients with Trisomy 21 (Down Syndrome; DS) may often result in additional karyotypic changes in the number or structure of chromosome 21. We present two DS patients whose immunoblast karyotypes were associated with changes in chromosome 21 ploidy. Patient L.E. developed acute lymphocytic leukemia concomitant with the loss of a single copy of chromosome 21. Trisomy 21 in this individual was due to maternal meiosis I nondisjunction. A recombination event resulted in reduction of maternal alleles to homozygosity distal to D21S167. Loss of the paternal chromosomes in the leukemia clone produced uniparental maternal disomy with isodisomy over a 25cM interval. This could, in theory, permit the unopposed expression of one or more homozygous recessive maternal tumor-associated genes, thus providing an explanation for leukemogenesis in this patient. Patient E.H. was diagnosed with acute monoblastic leukemia and consistently displayed tetrasomy 21 in the blast cell population. The DS karyotype probably arose from a mitotic error in which the paternal chromosome was duplicated. DNA polymorphism analysis indicated that the additional chromosome in the leukemia clone was of maternal origin. The presence of equal numbers of maternal and paternal chromosomes in the tetraploid blast clone would not appear to be consistent with the expression of a mutant tumor suppressor gene in this patient. Although tetrasomy 21 could be a non-specific karyotypic abnormality unrelated to leukemogenesis, it is possible that monoblastic leukemia may be a consequence of increased expression of one or more genes on this chromosome.

  14. Flow karyotyping and sorting of human chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Gray, J.W.; Lucas, J.; Peters, D.; Pinkel, D.; Trask, B.; van den Engh, G.; Van Dilla, M.A.

    1986-07-16

    Flow cytometry and sorting are becoming increasingly useful as tools for chromosome classfication and for the detection of numerical and structural chromosome aberrations. Chromosomes of a single type can be purified with these tools to facilitate gene mapping or production of chromosome specific recombinant DNA libraries. For analysis of chromosomes with flow cytometry, the chromosomes are extracted from mitotic cells, stained with one or more fluorescent dyes and classified one-by-one according to their dye content(s). Thus, the flow approach is fundamentally different than conventional karyotyping where chromosomes are classified within the context of a metaphase spread. Flow sorting allows purification of chromosomes that can be distinguished flow cytometrically. The authors describe the basic principles of flow cytometric chromosome classification i.e. flow karyotyping, and chromosome sorting and describe several applications. 30 refs., 8 figs.

  15. Chromosomal localization of silkworm (Bombyx mori) sericin gene 1 and chymotrypsin inhibitor 13 using fluorescence in situ hybridization

    Institute of Scientific and Technical Information of China (English)

    SONG FangZhou; CHANG PingAn; ZHANG PingBo; YI FaPing; MA YongPing; LU Cheng; Yutaka BANNO; Hiroshi FUJII

    2008-01-01

    The chromosomal locations of two single-copy genes, Ser-1 and C1-13, in silkworm (Bombyx mori)were detected at the molecular cytogenetics level by fluorescence in situ hybridization in the study. The resuits showed that Ser-1 is located near the distal end of the 11th linkage group, relatively st the 12.5±1.4position in pachytene; and that C1-13 has been mapped near the distal end of the 2nd linkage group,relatively at the 8.2±1.2 position in pachytene. Furthermore, their location model map-FISH map on silkworm chromosome was drawn. The FISH technique and its application to silkworm are also discussed in this paper.

  16. Chromosomal localization of silkworm (Bombyx mori) sericin gene 1 and chymotrypsin inhibitor 13 using fluorescence in situ hybridization

    Institute of Scientific and Technical Information of China (English)

    Yutaka; BANNO; Hiroshi; FUJII

    2008-01-01

    The chromosomal locations of two single-copy genes, Ser-1 and CI-13, in silkworm (Bombyx mori) were detected at the molecular cytogenetics level by fluorescence in situ hybridization in the study. The results showed that Ser-1 is located near the distal end of the 11th linkage group, relatively at the 12.5±1.4 position in pachytene; and that CI-13 has been mapped near the distal end of the 2nd linkage group, relatively at the 8.2±1.2 position in pachytene. Furthermore, their location model map-FISH map on silkworm chromosome was drawn. The FISH technique and its application to silkworm are also discussed in this paper.

  17. Human chromosomes: Structure, behavior, and effects

    Energy Technology Data Exchange (ETDEWEB)

    Therman, E.; Susman, M.

    1993-12-31

    The book `Human Chromosomes: Structure, Behavior, and Effects` covers the most important topics regarding human chromosomes and current research in cytogenetics. Attention is given both to structure and function of autosomes and sex chromosomes, as well as definitions and causes of chromosomal aberrations. This often involves discussion about various aspects of the cell cycle (both mitosis and meiosis). Methods and techniques involved in researching and mapping human chromosomes are also discussed.

  18. Arthroplasty of the distal ulna distal in managing patients with post-traumatic disorders of the distal radioulnar joint: measurement of quality of life

    Directory of Open Access Journals (Sweden)

    Marcio Aurélio Aita

    2015-12-01

    Full Text Available ABSTRACT OBJECTIVE: To measure the quality of life and clinical-functional results from patients diagnosed with osteoarthrosis of the distal radioulnar joint who underwent surgical treatment using the technique of total arthroplasty of the ulna, with a total or partial Ascension(r prosthesis of the distal ulna. METHODS: Ten patients were evaluated after 12 months of follow-up subsequent to total or partial arthroplasty of the distal ulna. All of them presented post-traumatic osteoarthrosis and/or chronic symptomatic instability of the distal radioulnar joint. The study was prospective. Seven patients had previously undergone wrist procedures (two cases with Darrach, three with Sauvé-Kapandji and two with ligament reconstruction of the fibrocartilage complex and three presented fractures of the distal ulna that evolved with pain, instability and osteoarthrosis of the distal radioulnar joint. The following were assessed: quality of life (DASH scale; percentage degree of palm grip strength (kgf and pronosupination range of motion in relation to the unaffected side; pain (VAS; return to work; subjective evaluation of radiography; and complications. RESULTS: The patients presented a mean range of motion of 174.5° (normal side: 180°. Quality of life was analyzed by applying the DASH questionnaire and the mean value found was 5.9. The mean pain score using the VAS was 2.3. The mean degree of palm grip strength (kgf was 50.7, which represented 90.7% of the strength on the unaffected side. The complication rate was 10%: this patient presented slight dorsal instability of the ulna and persistent pain, and did not return to work. This patient is still being followed up in the outpatient clinic and occupational therapy sector, with little improvement. He does not wish to undergo a new procedure. The mean length of follow-up was 16.8 months, with a minimum of 10 and maximum of 36 months. CONCLUSION: This concept is subject to the test of time

  19. Arthroplasty of the distal ulna distal in managing patients with post-traumatic disorders of the distal radioulnar joint: measurement of quality of life☆

    Science.gov (United States)

    Aita, Marcio Aurélio; Ibanez, Daniel Schneider; Saheb, Gabriel Cunha Barbosa; Alves, Rafael Saleme

    2015-01-01

    Objective To measure the quality of life and clinical–functional results from patients diagnosed with osteoarthrosis of the distal radioulnar joint who underwent surgical treatment using the technique of total arthroplasty of the ulna, with a total or partial Ascension® prosthesis of the distal ulna. Methods Ten patients were evaluated after 12 months of follow-up subsequent to total or partial arthroplasty of the distal ulna. All of them presented post-traumatic osteoarthrosis and/or chronic symptomatic instability of the distal radioulnar joint. The study was prospective. Seven patients had previously undergone wrist procedures (two cases with Darrach, three with Sauvé–Kapandji and two with ligament reconstruction of the fibrocartilage complex) and three presented fractures of the distal ulna that evolved with pain, instability and osteoarthrosis of the distal radioulnar joint. The following were assessed: quality of life (DASH scale); percentage degree of palm grip strength (kgf) and pronosupination range of motion in relation to the unaffected side; pain (VAS); return to work; subjective evaluation of radiography; and complications. Results The patients presented a mean range of motion of 174.5° (normal side: 180°). Quality of life was analyzed by applying the DASH questionnaire and the mean value found was 5.9. The mean pain score using the VAS was 2.3. The mean degree of palm grip strength (kgf) was 50.7, which represented 90.7% of the strength on the unaffected side. The complication rate was 10%: this patient presented slight dorsal instability of the ulna and persistent pain, and did not return to work. This patient is still being followed up in the outpatient clinic and occupational therapy sector, with little improvement. He does not wish to undergo a new procedure. The mean length of follow-up was 16.8 months, with a minimum of 10 and maximum of 36 months. Conclusion This concept is subject to the test of time. Implantation of a prosthesis is a

  20. Chromosome therapy. Correction of large chromosomal aberrations by inducing ring chromosomes in induced pluripotent stem cells (iPSCs).

    Science.gov (United States)

    Kim, Taehyun; Bershteyn, Marina; Wynshaw-Boris, Anthony

    2014-01-01

    The fusion of the short (p) and long (q) arms of a chromosome is referred to as a "ring chromosome." Ring chromosome disorders occur in approximately 1 in 50,000-100,000 patients. Ring chromosomes can result in birth defects, mental disabilities, and growth retardation if additional genes are deleted during the formation of the ring. Due to the severity of these large-scale aberrations affecting multiple contiguous genes, no possible therapeutic strategies for ring chromosome disorders have so far been proposed. Our recent study (Bershteyn et al.) using patient-derived fibroblast lines containing ring chromosomes, found that cellular reprogramming of these fibroblasts into induced pluripotent stem cells (iPSCs) resulted in the cell-autonomous correction of the ring chromosomal aberration via compensatory uniparental disomy (UPD). These observations have important implications for studying the mechanism of chromosomal number control and may lead to the development of effective therapies for other, more common, chromosomal aberrations.

  1. Blocking screws for the treatment of distal femur fractures.

    Science.gov (United States)

    Seyhan, Mustafa; Cakmak, Selami; Donmez, Ferdi; Gereli, Arel

    2013-07-01

    Intramedullary nailing is one of the most convenient biological options for treating distal femoral fractures. Because the distal medulla of the femur is wider than the middle diaphysis and intramedullary nails cannot completely fill the intramedullary canal, intramedullary nailing of distal femoral fractures can be difficult when trying to obtain adequate reduction. Some different methods exist for achieving reduction. The purpose of this study was determine whether the use of blocking screws resolves varus or valgus and translation and recurvatum deformities, which can be encountered in antegrade and retrograde intramedullary nailing. Thirty-four patients with distal femoral fractures underwent intramedullary nailing between January 2005 and June 2011. Fifteen patients treated by intramedullary nailing and blocking screws were included in the study. Six patients had distal diaphyseal fractures and 9 had distal diaphyseo-metaphyseal fractures. Antegrade nailing was performed in 7 patients and retrograde nailing was performed in 8. Reduction during surgery and union during follow-up were achieved in all patients with no significant complications. Mean follow-up was 26.6 months. Mean time to union was 12.6 weeks. The main purpose of using blocking screws is to achieve reduction, but they are also useful for maintaining permanent reduction. When inserting blocking screws, the screws must be placed 1 to 3 cm away from the fracture line to avoid from propagation of the fracture. When applied properly and in an adequate way, blocking screws provide an efficient solution for deformities encountered during intramedullary nailing of distal femur fractures. Copyright 2013, SLACK Incorporated.

  2. Autoxidation of oxymyoglobin with the distal (E7) glutamine.

    Science.gov (United States)

    Suzuki, T

    1987-08-05

    We reported previously that the distal(E7) histidine is replaced by glutamine in myoglobin from the shark, Galeorhinus japonicus. The amino-acid sequence of myoglobin from another shark, Heterodontus japonicus, has been determined. The myoglobin is composed of 148 residues, is acetylated at the N-terminus, and contains the distal(E7) histidine at position 59. Although the sequence homologies between G. japonicus, H. japonicus, and sperm-whale myoglobins were about 40-55%, their hydropathy profiles were very similar, indicating that they have a similar geometry in their globin folding. The autoxidation rates of the two shark oxymyoglobins were examined in 0.1 M buffer at 25 degrees C over pH range 4.5-11.5. The pH dependence for the autoxidation of H. japonicus myoglobin was very similar to that of sperm-whale myoglobin, although the rate was about 10-times higher over the pH range examined. In both myoglobins, autoxidation was largely accelerated by H+. On the other hand, the pH dependence of G. japonicus myoglobin, which has the distal glutamine in the place of histidine, was quite different from those of sperm-whale and H. japonicus myoglobins. One of the most remarkable features is the fact that the autoxidation rate is not enhanced with an increase in the concentration of H+ in the acidic range of pH, where the autoxidation of sperm-whale and H. japonicus myoglobins is most accelerated. This finding suggests that the distal(E7) histidine participates in the autoxidation reaction as a catalytic residue facilitating the movement of a catalytic proton.

  3. Recent advances in the management of distal ulcerative colitis

    Institute of Scientific and Technical Information of China (English)

    Ioannis; E; Koutroubakis

    2010-01-01

    The most frequent localization of ulcerative colitis(UC) is the distal colon.In treating patients with active distal UC,efficacy and targeting of the drug to the distal colon are key priorities.Oral and rectal 5-aminosalicylic acid(5-ASA) preparations represent the first line therapy of mild-to-moderate distal UC for both induction and maintenance treatment.It has been reported that many UC patients are not adherent to therapy and that noncompliant patients had a 5-fold risk of experiencing a relapse.These findings led to the introduction of oncedaily oral regimens of 5-ASA as better therapeutic options in clinical practice due to improved adherence.New formulations of mesalazine,including the multimatrix delivery system,and mesalazine granules,which allow once-daily administration,have been developed.They have been demonstrated to be efficacious in inducing and maintaining remission in mild-to-moderate distal UC in large clinical trials.However,existing data for distal UC are rather insufficient to make a comparison between new and classical 5-ASA formulations.It seems that the new formulations are at least as effective as classical oral 5-ASA formulations.Other treatment options,in the case that 5-ASA therapy is not effective,include systemic corticosteroids,thiopurines(azathioprine or 6-mercaptopurine),cyclosporine,infliximab and surgery.The combination of a prompt diagnostic work-up,a correct therapeutic approach and an appropriate follow-up schedule is important in the management of patients with distal UC.This approach can shorten the duration of symptoms,induce a prolonged remission,improve patient’s quality of life,and optimize the use of health resources.

  4. Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

    NARCIS (Netherlands)

    Franssen, M. T. M.; Korevaar, J. C.; Tjoa, W. M.; Leschot, N. J.; Bossuyt, P. M. M.; Knegt, A. C.; Suykerbuyk, R. F.; Hochstenbach, R.; van der Veen, F.; Goddijn, M.

    2008-01-01

    Objective To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. Methods From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnorma

  5. Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

    NARCIS (Netherlands)

    Franssen, M. T. M.; Korevaar, J. C.; Tjoa, W. M.; Leschot, N. J.; Bossuyt, P. M. M.; Knegt, A. C.; Suykerbuyk, R. F.; Hochstenbach, R.; van der Veen, F.; Goddijn, M.

    2008-01-01

    Objective To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. Methods From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnorma

  6. Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18

    Energy Technology Data Exchange (ETDEWEB)

    Boghosian-Sell, L.; Mewar, R.; Harrison, W.; Shapiro, R.M.; Zackai, E.H.; Carey, J.; Davis-Keppen, L.; Hudgins, L.; Overhauser, J.

    1994-09-01

    In an effort to identify regions on chromosome 18 that may be critical in the appearance of the Edwards syndrome phenotype, the authors have analyzed six patients with partial duplication of chromosome 18. Four of the patients have duplications involving the distal half of 18q (18q21.1-qter) and are very mildly affected. The remaining two patients have most of 18q (18q12.1-qter) duplicated, are severely affected, and have been diagnosed with Edwards syndrome. The authors have employed FISH, using DNA probes from a chromosome 18-specific library, for the precise determination of the duplicated material in each of these patients. The clinical features and the extent of the chromosomal duplication in these patients were compared with four previously reported partial trisomy 18 patients, to identify regions of chromosome 18 that may be responsible for certain clinical features of trisomy 18. The comparative analysis confirmed that there is no single region on 18q that is sufficient to produce the trisomy 18 phenotype and identified two regions on 18q that may work in conjunction to produce the Edwards syndrome phenotype. In addition, correlative analysis indicates that duplication of 18q12.3-q22.1 may be associated with more severe mental retardation in trisomy 18 individuals. 25 refs., 3 figs., 1 tab.

  7. A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage.

    Science.gov (United States)

    Morrissette, Jennifer J D; Medne, Livija; Bentley, Tyrone; Owens, Nancy L; Geiger, Elizabeth; Pipan, Mary; Zackai, Elaine H; Shaikh, Tamim; Spinner, Nancy B

    2005-08-30

    We present a patient with minor dysmorphic features and a mosaic karyotype with two different abnormal cell lines, both involving abnormalities of chromosome 18. Twenty percent of cells studied (4/20) had 46 chromosomes with a large derivative pseudoisodicentric chromosome 18. This chromosome was deleted for 18pter and duplicated for part of proximal 18p (18p11.2 based on fluorescence in situ hybridization (FISH) studies and all of 18q. The two copies of portions of chromosome 18 were fused in an inverted fashion (duplicated for 18qter->18p11.3). The smaller der(18) was present in 80% of cells studied (16/20) and had a normal q-arm, while the p-arm was missing the subtelomere region but had duplication of a part of 18p. FISH studies showed that the larger derivative 18 contained the 18q subtelomere at each end, but the 18p subtelomere was absent, consistent with fusion of two regions within 18p resulting in deletion of the subtelomeric regions. The smaller der(18) was also missing the 18p subtelomere (with normal 18q as expected). Further testing with BAC clones mapping within 18p11.2 showed that these sequences were duplicated and inverted in both of the der(18)s. These findings lead us to hypothesize that the smaller der(18) was derived from the larger, dicentric 18 following anaphase bridge formation, with breakage distal to the duplicated segment.

  8. Nonrandom distribution of interhomolog recombination events induced by breakage of a dicentric chromosome in Saccharomyces cerevisiae.

    Science.gov (United States)

    Song, Wei; Gawel, Malgorzata; Dominska, Margaret; Greenwell, Patricia W; Hazkani-Covo, Einat; Bloom, Kerry; Petes, Thomas D

    2013-05-01

    Dicentric chromosomes undergo breakage in mitosis, resulting in chromosome deletions, duplications, and translocations. In this study, we map chromosome break sites of dicentrics in Saccharomyces cerevisiae by a mitotic recombination assay. The assay uses a diploid strain in which one homolog has a conditional centromere in addition to a wild-type centromere, and the other homolog has only the wild-type centromere; the conditional centromere is inactive when cells are grown in galactose and is activated when the cells are switched to glucose. In addition, the two homologs are distinguishable by multiple single-nucleotide polymorphisms (SNPs). Under conditions in which the conditional centromere is activated, the functionally dicentric chromosome undergoes double-stranded DNA breaks (DSBs) that can be repaired by mitotic recombination with the homolog. Such recombination events often lead to loss of heterozygosity (LOH) of SNPs that are centromere distal to the crossover. Using a PCR-based assay, we determined the position of LOH in multiple independent recombination events to a resolution of ∼4 kb. This analysis shows that dicentric chromosomes have recombination breakpoints that are broadly distributed between the two centromeres, although there is a clustering of breakpoints within 10 kb of the conditional centromere.

  9. A novel tandem repeat sequence located on human chromosome 4p: isolation and characterization.

    Science.gov (United States)

    Kogi, M; Fukushige, S; Lefevre, C; Hadano, S; Ikeda, J E

    1997-06-01

    In an effort to analyze the genomic region of the distal half of human chromosome 4p, to where Huntington disease and other diseases have been mapped, we have isolated the cosmid clone (CRS447) that was likely to contain a region with specific repeat sequences. Clone CRS447 was subjected to detailed analysis, including chromosome mapping, restriction mapping, and DNA sequencing. Chromosome mapping by both a human-CHO hybrid cell panel and FISH revealed that CRS447 was predominantly located in the 4p15.1-15.3 region. CRS447 was shown to consist of tandem repeats of 4.7-kb units present on chromosome 4p. A single EcoRI unit was subcloned (pRS447), and the complete sequence was determined as 4752 nucleotides. When pRS447 was used as a probe, the number of copies of this repeat per haploid genome was estimated to be 50-70. Sequence analysis revealed that it contained two internal CA repeats and one putative ORF. Database search established that this sequence was unreported. However, two homologous STS markers were found in the database. We concluded that CRS447/pRS447 is a novel tandem repeat sequence that is mainly specific to human chromosome 4p.

  10. Syndromic non-compaction of the left ventricle: associated chromosomal anomalies.

    Science.gov (United States)

    Digilio, M C; Bernardini, L; Gagliardi, M G; Versacci, P; Baban, A; Capolino, R; Dentici, M L; Roberti, M C; Angioni, A; Novelli, A; Marino, B; Dallapiccola, B

    2013-10-01

    Non-compaction of the left ventricle (NCLV) is a cardiomyopathy characterized by prominent left ventricular trabeculae and deep intertrabecular recesses. Associated extracardiac anomalies occur in 14-66% of patients of different series, while chromosomal anomalies were reported in sporadic cases. We investigated the prevalence of chromosomal imbalances in 25 syndromic patients with NCLV, using standard cytogenetic, subtelomeric fluorescent in situ hybridization, and array-comparative genomic hybridization (CGH) analyses. Standard chromosome analysis disclosed an abnormality in three (12%) patients, including a 45,X/46,XX mosaic, a 45,X/46,X,i(Y)(p11) mosaic, and a de novo Robertsonian 13;14 translocation in a child affected by hypomelanosis of Ito. Cryptic chromosome anomalies were found in six (24%) cases, including 1p36 deletion in two patients, 7p14.3p14.1 deletion, 18p subtelomeric deletion, 22q11.2 deletion associated with velo-cardio-facial syndrome, and distal 22q11.2 deletion, each in one case. These results recommend accurate clinical evaluation of patients with NCLV, and suggest that chromosome anomalies occur in about one third of syndromic NCLV individuals, without metabolic/neuromuscular disorder. Array-CGH analysis should be included in the diagnostic protocol of these patients, because different submicroscopic imbalances are causally associated with this disorder and can pinpoint candidate genes for this cardiomyopathy. © 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Cytogenetic and molecular markers for detecting Aegilops uniaristata chromosomes in a wheat background.

    Science.gov (United States)

    Gong, Wenping; Li, Guangrong; Zhou, Jianping; Li, Genying; Liu, Cheng; Huang, Chengyan; Zhao, Zhendong; Yang, Zujun

    2014-09-01

    Aegilops uniaristata has many agronomically useful traits that can be used for wheat breeding. So far, a Triticum turgidum - Ae. uniaristata amphiploid and one set of Chinese Spring (CS) - Ae. uniaristata addition lines have been produced. To guide Ae. uniaristata chromatin transformation from these lines into cultivated wheat through chromosome engineering, reliable cytogenetic and molecular markers specific for Ae. uniaristata chromosomes need to be developed. Standard C-banding shows that C-bands mainly exist in the centromeric regions of Ae. uniaristata but rarely at the distal ends. Fluorescence in situ hybridization (FISH) using (GAA)8 as a probe showed that the hybridization signal of chromosomes 1N-7N are different, thus (GAA)8 can be used to identify all Ae. uniaristata chromosomes in wheat background simultaneously. Moreover, a total of 42 molecular markers specific for Ae. uniaristata chromosomes were developed by screening expressed sequence tag - sequence tagged site (EST-STS), expressed sequence tag - simple sequence repeat (EST-SSR), and PCR-based landmark unique gene (PLUG) primers. The markers were subsequently localized using the CS - Ae. uniaristata addition lines and different wheat cultivars as controls. The cytogenetic and molecular markers developed herein will be helpful for screening and identifying wheat - Ae. uniaristata progeny.

  12. Chromosome segregation in plant meiosis

    Science.gov (United States)

    Zamariola, Linda; Tiang, Choon Lin; De Storme, Nico; Pawlowski, Wojtek; Geelen, Danny

    2014-01-01

    Faithful chromosome segregation in meiosis is essential for ploidy stability over sexual life cycles. In plants, defective chromosome segregation caused by gene mutations or other factors leads to the formation of unbalanced or unreduced gametes creating aneuploid or polyploid progeny, respectively. Accurate segregation requires the coordinated execution of conserved processes occurring throughout the two meiotic cell divisions. Synapsis and recombination ensure the establishment of chiasmata that hold homologous chromosomes together allowing their correct segregation in the first meiotic division, which is also tightly regulated by cell-cycle dependent release of cohesin and monopolar attachment of sister kinetochores to microtubules. In meiosis II, bi-orientation of sister kinetochores and proper spindle orientation correctly segregate chromosomes in four haploid cells. Checkpoint mechanisms acting at kinetochores control the accuracy of kinetochore-microtubule attachment, thus ensuring the completion of segregation. Here we review the current knowledge on the processes taking place during chromosome segregation in plant meiosis, focusing on the characterization of the molecular factors involved. PMID:24987397

  13. Chromosome segregation in plant meiosis

    Directory of Open Access Journals (Sweden)

    Linda eZamariola

    2014-06-01

    Full Text Available Faithful chromosome segregation in meiosis is essential for ploidy stability over sexual life cycles. In plants, defective chromosome segregation caused by gene mutations or other factors leads to the formation of unbalanced or unreduced gametes creating aneuploid or polyploid progeny, respectively. Accurate segregation requires the coordinated execution of conserved processes occurring throughout the two meiotic cell divisions. Synapsis and recombination ensure the establishment of chiasmata that hold homologous chromosomes together allowing their correct segregation in the first meiotic division, which is also tightly regulated by cell-cycle dependent release of cohesin and monopolar attachment of sister kinetochores to microtubules. In meiosis II, bi-orientation of sister kinetochores and proper spindle orientation correctly segregate chromosomes in four haploid cells. Checkpoint mechanisms acting at kinetochores control the accuracy of kinetochore-microtubule attachment, thus ensuring the completion of segregation. Here we review the current knowledge on the processes taking place during chromosome segregation in plant meiosis, focusing on the characterization of the molecular factors involved.

  14. Dean flow fractionation of chromosomes

    Science.gov (United States)

    Hockin, Matt; Sant, Himanshu J.; Capecchi, Mario; Gale, Bruce K.

    2016-03-01

    Efforts to transfer intact mammalian chromosomes between cells have been attempted for more than 50 years with the consistent result being transfer of sub unit length pieces regardless of method. Inertial microfluidics is a new field that has shown much promise in addressing the fractionation of particles in the 2-20 μm size range (with unknown limits) and separations are based upon particles being carried by curving confined flows (within a spiral shaped, often rectangular flow chamber) and migrating to stable "equilibrium" positions of varying distance from a chamber wall depending on the balance of dean and lift forces. We fabricated spiral channels for inertial microfluidic separations using a standard soft lithography process. The concentration of chromosomes, small contaminant DNA and large cell debris in each outlets were evaluated using microscope (60X) and a flow cytometer. Using Dean Flow Fractionation, we were able to focus 4.5 times more chromosomes in outlet 2 compared to outlet 4 where most of the large debris is found. We recover 16% of the chromosomes in outlet #1- 50% in 2, 23% in 3 and 11% in 4. It should be noted that these estimates of recovery do not capture one piece of information- it actually may be that the chromosomes at each outlet are physically different and work needs to be done to verify this potential.

  15. Ejecta emplacement: from distal to proximal

    Science.gov (United States)

    Artemieva, N.

    2008-09-01

    Introduction Most part of impact ejecta is deposited ballistically at some distance from a crater, defined by ejection velocity V and ejection angle α: d=v2sinα/g. In case of giant impacts, planetary curvature should be taken into account [1]. Combined with ejecta scaling [2], these relations allow to define ejecta thickness as a function of distance. Ejecta from large craters are deposited at velocity high enough to mobilize substrate material and to thicken ejecta deposits [3]. Ballistic approximation is valid for airless bodies (if impact vaporization is not vast) or for proximal ejecta of large impact craters, where ejecta mass per unit area is substantially greater than the mass of involved vapor/atmosphere (M-ratio). Deposition of distal ejecta, in which ejecta mass is negligible compared to the atmosphere, may be also treated in a simplified manner, i.e. as 1) passive motion of ejected particles within an impact plume and 2) later, as sedimentation of particles in undisturbed atmosphere (equilibrium between gravity and drag). In all intermediate M-ratio values, impact ejecta move like a surge, i.e. dilute suspension current in which particles are carried in turbulent flows under the influence of gravity. Surges are well-known for near-surface explosive tests, described in detail for volcanic explosions (Plinian column collapse, phreato-magmatic eruption, lateral blast), and found in ejecta from the Chicxulub [4] and the Ries [5]. Important aspects of surge transport include its ability to deposit ejecta over a larger area than that typical of continuous ballistic ejecta and to create multiple ejecta layers. Numerical model Two-phase hydrodynamics. Surges should be modeled in the frame of two-phase hydrodynamics, i.e. interaction between solid/molten particles and atmospheric gas/impact vapor should be taken into account. There are two techniques of solving equations for dust particle motion in a gas flow. The first one describes solid/molten particles as a

  16. Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures

    Directory of Open Access Journals (Sweden)

    Kesterson Robert A

    2003-04-01

    Full Text Available Abstract Background Chromosomal abnormalities affecting human chromosome 15q11-q13 underlie multiple genomic disorders caused by deletion, duplication and triplication of intervals in this region. These events are mediated by highly homologous segments of DNA, or duplicons, that facilitate mispairing and unequal cross-over in meiosis. The gene encoding an amyloid precursor protein-binding protein (APBA2 was previously mapped to the distal portion of the interval commonly deleted in Prader-Willi and Angelman syndromes and duplicated in cases of autism. Results We show that this gene actually maps to a more telomeric location and is partially duplicated within the broader region. Two highly homologous copies of an interval containing a large 5' exon and downstream sequence are located ~5 Mb distal to the intact locus. The duplicated copies, containing the first coding exon of APBA2, can be distinguished by single nucleotide sequence differences and are transcriptionally inactive. Adjacent to APBA2 maps a gene termed KIAA0574. The protein encoded by this gene is weakly homologous to a protein termed X123 that in turn maps adjacent to APBA1 on 9q21.12; APBA1 is highly homologous to APBA2 in the C-terminal region and is distinguished from APBA2 by the N-terminal region encoded by this duplicated exon. Conclusion The duplication of APBA2 sequences in this region adds to a complex picture of different low copy repeats present across this region and elsewhere on the chromosome.

  17. The Reduction of Chromosome Number in Meiosis Is Determined by Properties Built into the Chromosomes

    OpenAIRE

    Paliulis, Leocadia V.; Nicklas, R. Bruce

    2000-01-01

    In meiosis I, two chromatids move to each spindle pole. Then, in meiosis II, the two are distributed, one to each future gamete. This requires that meiosis I chromosomes attach to the spindle differently than meiosis II chromosomes and that they regulate chromosome cohesion differently. We investigated whether the information that dictates the division type of the chromosome comes from the whole cell, the spindle, or the chromosome itself. Also, we determined when chromosomes can switch from ...

  18. Geometric morphometric analysis reveals sexual dimorphism in the distal femur.

    Science.gov (United States)

    Cavaignac, Etienne; Savall, Frederic; Faruch, Marie; Reina, Nicolas; Chiron, Philippe; Telmon, Norbert

    2016-02-01

    An individual's sex can be determined by the shape of their distal femur. The goal of this study was to show that differences in distal femur shape related to sexual dimorphism could be identified, visualized, and quantified using 3D geometric morphometric analysis. Geometric morphometric analysis was carried out on CT scans of the distal femur of 256 subjects living in the south of France. Ten landmarks were defined on 3D reconstructions of the distal femur. Both traditional metric and geometric morphometric analyses were carried out on these bone reconstructions; these analyses identified trends in bone shape in sex-based subgroups. Sex-related differences in shape were statistically significant. The subject's sex was correctly assigned in 77.3% of cases using geometric morphometric analysis. This study has shown that geometric morphometric analysis of the distal femur is feasible and has revealed sexual dimorphism differences in this bone segment. This reliable, accurate method could be used for virtual autopsy and be used to perform diachronic and interethnic comparisons. Moreover, this study provides updated morphometric data for a modern population in the south of France. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  19. Far cortical locking screws in distal femur fractures.

    Science.gov (United States)

    Adams, John D; Tanner, Stephanie L; Jeray, Kyle J

    2015-03-01

    Distal femur fractures routinely heal by secondary bone healing, which relies on interfragmentary motion. Periarticular locking plates are commonly used for fixation in distal femur fractures but are associated with a high nonunion rate, likely due to the stiffness of the constructs. Far cortical locking (FCL) screws are designed to allow micromotion at the near cortex while maintaining purchase in only the far cortex. Although clinical data are limited, these screws have been shown in biomechanical studies to provide excellent interfragmentary motion, and animal models have shown increased callus formation compared with traditional locking screws. The purpose of this study was to examine the clinical effects that FCL screws have on healing in distal femur fractures treated with locked constructs. In this retrospective case series, 15 patients with a distal femur fracture treated with MotionLoc screws (Zimmer, Warsaw, Indiana) were analyzed. Serial radiographs were evaluated for callus presence and time to union. All fractures were either 33-A3 or 33-C2 according to the AO classification system, and 5 (33%) were open. Bone loss was recorded in 2 patients. There were no nonunions, and average time to union was 24 weeks. There were no implant failures, and all 5 open fractures, including the 2 with bone loss, healed without intervention. There was 1 reoperation due to painful hardware. Although this is a small case series, these results are promising. Far cortical locking screws may provide the answer to the high nonunion rate associated with distal femur fractures treated with traditional locked constructs.

  20. Influence of distal tibiofibular synostosis on ankle function

    Institute of Scientific and Technical Information of China (English)

    HOU Zhen-hai; ZHOU Ji-hong; YE Hong; SHI Jian-guo; ZHENG Long-bao; YAO Jun; NI Zhi-ming

    2009-01-01

    Objective: To study the influence distal tibiofibular synostosis on ankle function.Methods: From October 1998 to October 2004,a total of 281 consecutive patients underwent operations because of ankle fractures or distal fractures of the tibia and fibula.Distal tibiofibular synostosis occurred after operation in 8 Patients.The duration of follow-up averaged 20.6 months (14-44 months).The ankle function was assessed on the basis of functional rating system described by Mazur.1Results: According to Mazur's ankle evaluation system,4 patients achieved an excellent result,2 a good result and 2 a fair result.The dorsiflexion of the synostosis ankle reduced by 8.26 degrees as compared with that of the contralateral ankle.and there was little influence on the plantar flexion.All the Patients had a normal gait.Conclusion: The distal tibiofibular synostosis after the operation of ankle fractures or distal fractures of the tibia and fibula usually gives rise to few symptoms and needs no specific treatment.

  1. Accuracy of distal radius positioning using an anatomical plate.

    Science.gov (United States)

    Vroemen, Joy C; Dobbe, Johannes G G; Sierevelt, Inger N; Strackee, Simon D; Streekstra, Geert J

    2013-04-01

    Over the past decade, several anatomical plates have been introduced to improve the result of open reduction and internal fixation of the distal radius. Using 3-dimensional imaging techniques, the authors studied the accuracy and reproducibility of distal radius positioning using anatomical plates.Distal radius fractures and the correction of these fractures were simulated with plastic bone models of radii. The authors simulated a defect by removing an arbitrary wedge shape from the artificial radii. Two surgeons corrected these fractures by placing 2 anatomical plate types according to the plate manufacturers' instructions. The residual positioning errors of the distal segment in relation to the unaffected radii were determined using 3-dimensional imaging and were compared with naturally occurring bilateral radius differences in healthy individuals. In many cases, positioning does not agree with differences based on bilateral asymmetry in healthy patients.This study indicated the accuracy of anatomical plates. Positioning an anatomical plate may lead to considerable residual errors in individual patients. Volar distal radius plate shapes differ among plate manufacturers. Therefore, one plate may perform better than another in an individual.

  2. OPTIMAL DISTAL SCREW ALIGNMENT IN THE GAMMA NAIL

    Institute of Scientific and Technical Information of China (English)

    Ching-KongChao; Chun-ChingHsiao; Po-QuangChen

    2002-01-01

    The effect of stress distribution due to the changes of the distal screw alignment in relation to the Gamma nail and the femoral shaft is thoroughly studied in this paper. Failure of the Gamma nail composite occurs through the cranial aperture of the distal screws and the insertion hole for the lag screw due to nonunion, delayed-union and continued weight-bearing. A three-dimensional finite element model was used to study the fractured femur, the Gamma nail, the lag screw and the distal locking screws. The first and the second distal screws were inserted into the Gamma nail in four different configurations. We found that the stress of the Gamma nail composite was substantially reduced with the two screws configured in the anterior to posterior direction. This alignment can bear greater loading in the more demanding fracture types. In the subtrochanteric fracture or the comminuted fractures at the proximal femur, the optimal alignment of the two distal screws was in the anterior to posterior direction.

  3. Molecular organization and chromosomal localization of 5S rDNA in Amazonian Engystomops (Anura, Leiuperidae).

    Science.gov (United States)

    Rodrigues, Débora Silva; Rivera, Miryan; Lourenço, Luciana Bolsoni

    2012-03-20

    For anurans, knowledge of 5S rDNA is scarce. For Engystomops species, chromosomal homeologies are difficult to recognize due to the high level of inter- and intraspecific cytogenetic variation. In an attempt to better compare the karyotypes of the Amazonian species Engystomops freibergi and Engystomops petersi, and to extend the knowledge of 5S rDNA organization in anurans, the 5S rDNA sequences of Amazonian Engystomops species were isolated, characterized, and mapped. Two types of 5S rDNA, which were readily differentiated by their NTS (non-transcribed spacer) sizes and compositions, were isolated from specimens of E. freibergi from Brazil and E. petersi from two Ecuadorian localities (Puyo and Yasuní). In the E. freibergi karyotypes, the entire type I 5S rDNA repeating unit hybridized to the pericentromeric region of 3p, whereas the entire type II 5S rDNA repeating unit mapped to the distal region of 6q, suggesting a differential localization of these sequences. The type I NTS probe clearly detected the 3p pericentromeric region in the karyotypes of E. freibergi and E. petersi from Puyo and the 5p pericentromeric region in the karyotype of E. petersi from Yasuní, but no distal or interstitial signals were observed. Interestingly, this probe also detected many centromeric regions in the three karyotypes, suggesting the presence of a satellite DNA family derived from 5S rDNA. The type II NTS probe detected only distal 6q regions in the three karyotypes, corroborating the differential distribution of the two types of 5S rDNA. Because the 5S rDNA types found in Engystomops are related to those of Physalaemus with respect to their nucleotide sequences and chromosomal locations, their origin likely preceded the evolutionary divergence of these genera. In addition, our data indicated homeology between Chromosome 5 in E. petersi from Yasuní and Chromosomes 3 in E. freibergi and E. petersi from Puyo. In addition, the chromosomal location of the type II 5S r

  4. Chromosome conformation elucidates regulatory relationships in developing human brain.

    Science.gov (United States)

    Won, Hyejung; de la Torre-Ubieta, Luis; Stein, Jason L; Parikshak, Neelroop N; Huang, Jerry; Opland, Carli K; Gandal, Michael J; Sutton, Gavin J; Hormozdiari, Farhad; Lu, Daning; Lee, Changhoon; Eskin, Eleazar; Voineagu, Irina; Ernst, Jason; Geschwind, Daniel H

    2016-10-27

    Three-dimensional physical interactions within chromosomes dynamically regulate gene expression in a tissue-specific manner. However, the 3D organization of chromosomes during human brain development and its role in regulating gene networks dysregulated in neurodevelopmental disorders, such as autism or schizophrenia, are unknown. Here we generate high-resolution 3D maps of chromatin contacts during human corticogenesis, permitting large-scale annotation of previously uncharacterized regulatory relationships relevant to the evolution of human cognition and disease. Our analyses identify hundreds of genes that physically interact with enhancers gained on the human lineage, many of which are under purifying selection and associated with human cognitive function. We integrate chromatin contacts with non-coding variants identified in schizophrenia genome-wide association studies (GWAS), highlighting multiple candidate schizophrenia risk genes and pathways, including transcription factors involved in neurogenesis, and cholinergic signalling molecules, several of which are supported by independent expression quantitative trait loci and gene expression analyses. Genome editing in human neural progenitors suggests that one of these distal schizophrenia GWAS loci regulates FOXG1 expression, supporting its potential role as a schizophrenia risk gene. This work provides a framework for understanding the effect of non-coding regulatory elements on human brain development and the evolution of cognition, and highlights novel mechanisms underlying neuropsychiatric disorders.

  5. DNA Probe Pooling for Rapid Delineation of Chromosomal Breakpoints

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Chun-Mei; Kwan, Johnson; Baumgartner, Adolf; Weier, Jingly F.; Wang, Mei; Escudero, Tomas; Munne' , Santiago; Zitzelsberger, Horst F.; Weier, Heinz-Ulrich

    2009-01-30

    Structural chromosome aberrations are hallmarks of many human genetic diseases. The precise mapping of translocation breakpoints in tumors is important for identification of genes with altered levels of expression, prediction of tumor progression, therapy response, or length of disease-free survival as well as the preparation of probes for detection of tumor cells in peripheral blood. Similarly, in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) for carriers of balanced, reciprocal translocations benefit from accurate breakpoint maps in the preparation of patient-specific DNA probes followed by a selection of normal or balanced oocytes or embryos. We expedited the process of breakpoint mapping and preparation of case-specific probes by utilizing physically mapped bacterial artificial chromosome (BAC) clones. Historically, breakpoint mapping is based on the definition of the smallest interval between proximal and distal probes. Thus, many of the DNA probes prepared for multi-clone and multi-color mapping experiments do not generate additional information. Our pooling protocol described here with examples from thyroid cancer research and PGD accelerates the delineation of translocation breakpoints without sacrificing resolution. The turnaround time from clone selection to mapping results using tumor or IVF patient samples can be as short as three to four days.

  6. Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13–2q14.1 and Paralogous Regions on Other Human Chromosomes

    Science.gov (United States)

    Fan, Yuxin; Linardopoulou, Elena; Friedman, Cynthia; Williams, Eleanor; Trask, Barbara J.

    2002-01-01

    Human chromosome 2 was formed by the head-to-head fusion of two ancestral chromosomes that remained separate in other primates. Sequences that once resided near the ends of the ancestral chromosomes are now interstitially located in 2q13–2q14.1. Portions of these sequences had duplicated to other locations prior to the fusion. Here we present analyses of the genomic structure and evolutionary history of >600 kb surrounding the fusion site and closely related sequences on other human chromosomes. Sequence blocks that closely flank the inverted arrays of degenerate telomere repeats marking the fusion site are duplicated at many, primarily subtelomeric, locations. In addition, large portions of a 168-kb centromere-proximal block are duplicated at 9pter, 9p11.2, and 9q13, with 98%–99% average sequence identity. A 67-kb block on the distal side of the fusion site is highly homologous to sequences at 22qter. A third ∼100-kb segment is 96% identical to a region in 2q11.2. By integrating data on the extent and similarity of these paralogous blocks, including the presence of phylogenetically informative repetitive elements, with observations of their chromosomal distribution in nonhuman primates, we infer the order of the duplications that led to their current arrangement. Several of these duplicated blocks may be associated with breakpoints of inversions that occurred during primate evolution and of recurrent chromosome rearrangements in humans. [Supplemental material is available online at http://www.genome.org. The following individuals kindly provided reagents, samples, or unpublished information as indicated in the paper: T. Newman, C. Harris, and J. Young.] PMID:12421751

  7. Management of radionecrosis of the vulva and distal vagina

    Energy Technology Data Exchange (ETDEWEB)

    Roberts, W.S.; Hoffman, M.S.; LaPolla, J.P.; Ruas, E.; Fiorica, J.V.; Cavanagh, D. (Univ. of South Florida, Tampa (USA))

    1991-05-01

    Twelve patients were seen between January 1983 and June 1989 with the clinical diagnosis of radionecrosis of the vulva or distal vagina. Seven patients received radiation for vulvar cancer, three for distal vaginal cancer, and two for recurrent endometrial cancer. No patient healed spontaneously and the mean delay in surgical therapy was 8.5 months. The radionecrotic site was treated with local therapy, radical local excision (with or without colostomy), or exenteration. The operative defect was closed primarily in three patients and covered with local flaps or myocutaneous flaps in seven patients. The two patients with local care still have radionecrotic ulcers. One of three patients who were closed primarily continues to have an ulcer. All other patients have healed satisfactorily except one who died after two attempts to correct the problem. Radionecrosis of the vulva and distal vagina should generally be treated surgically.

  8. Two-stitch technique for distal shaft hypospadias repair.

    Science.gov (United States)

    Herman, Oscar; Heller, Lior; Dorenbaum, Arye; Westreich, Melvyn

    2002-02-01

    The authors present a new technique for distal shaft hypospadias repair using a flip flap fashioned with only two stitches. In raising the flap, the tissues lateral and proximal to the flap are undermined but there is no undermining beneath the flap. The flap is sutured up to the glans with two 4-0 Vicryl sutures. No sutures are placed at the lateral edges of the flap to create the "tube" of the neo-urethra, and no postoperative urinary drainage is used. Thirty-three children with distal shaft hypospadias underwent the "two-stitch" flip flap operation. The complications were one fistula and one case of urinary retention. The technique is an easy method for reconstructing distal penile hypospadias with a very low rate of complications and is suitable for an outpatient surgical setting.

  9. Septic arthritis of the distal interphalangeal joint in 12 horses.

    Science.gov (United States)

    Honnas, C M; Welch, R D; Ford, T S; Vacek, J R; Watkins, J P

    1992-01-01

    The medical records of 12 horses with septic arthritis of a distal interphalangeal joint were reviewed to determine clinical features and response to treatment. Sepsis was caused by trauma or an injection that resulted in an open or contaminated distal interphalangeal joint. All horses were severely lame. Treatment included broad-spectrum parenterally administered antimicrobial drugs (ten horses), percutaneous through-and-through joint lavage (eight horses), indwelling drains (three horses), immobilization of the limb in a cast (three horses), intraarticular injection of sodium hyaluronate (one horse), intraarticular injection of antimicrobial drugs (five horses), curettage of the distal phalanx (one horse), and cancellous bone grafting to promote fusion (one horse). Five horses were euthanatized. Ankylosis of the affected joint developed in five horses, four of which are pasture sound. Two horses treated medically are sound although one underwent subsequent palmar digital neurectomy for treatment of navicular syndrome.

  10. Flexor Tendon Ruptures After Distal Scaphoid Excision for Scaphotrapeziotrapezoid Osteoarthritis.

    Science.gov (United States)

    Deren, Matthew E; Mitchell, Charles H; Weiss, Arnold-Peter C

    2017-09-01

    Distal scaphoid excision is one treatment option for osteoarthritis of the scaphotrapeziotrapezoid (STT) joint following failure of conservative measures. Potential complications of this procedure include injury to the carpal ligaments, cartilage, and radial artery. A single case was identified by the senior author, and the medical record was reviewed for surgical notes, progress notes, and radiographs. A 68-year-old male sustained ruptures of the flexor digitorum superficialis (FDS) and flexor digitorum profundus to the index finger 3 years following a distal scaphoid excision for symptomatic STT osteoarthritis. He required a flexor tendon reconstruction using the remaining FDS tendon for graft incorporated with a Pulvertaft weave. His midcarpal pain continued after recovery of his index finger function, eventually requiring a 4-corner fusion of the wrist. Flexor tendon rupture is a previously unreported complication of distal scaphoid excision for STT arthritis.

  11. [Diagnostic of group A streptococcal blistering distal dactylitis].

    Science.gov (United States)

    Cohen, R; Levy, C; Cohen, J; Corrard, F; Deberdt, P; Béchet, S; Bonacorsi, S; Bidet, Ph

    2014-11-01

    Blistering distal dactylitis is a distinct clinical entity, generally due to S. pyogenes, unfrequently reported. Characteristically, blistering distal dactylitis is described as a localized infection involving the distal phalanx of the digits, and it usually presents as a fluid-filled blister. Between October 2009 and June 2014, 69 children (median age: 60 months, extremes: 0,6-176) were enrolled. The sensitivity of GAS rapid antigen detection test was 97 % (CI 95 %: 83-100 %), the specificity was 76 % (CI 95 %: 60-89 %), the negative predictive value was 97 % (CI 95 %: 83-100 %), and the positive predictive value 76 % (CI 95 %: 60-89 %). All patients with a positive GAS rapid antigen test were treated with antibiotics (amoxicillin essentially) and cured without surgery.

  12. Transphyseal separation of the distal humerus in newborns

    Directory of Open Access Journals (Sweden)

    Cosimo Gigante

    2017-06-01

    Full Text Available Obstetric traumatic separation of the distal humeral epiphysis is a very uncommon injury, which presents a diagnostic challenge. These case serials reviewed the functional outcomes of 5 patients who had sustained a fracture-separation of the distal humeral epiphysis at birth. The diagnosis was made at a mean time of 40.8 h after delivery. All the patients were treated with gentle close manipulation, reduction under fluoroscopy and above-elbow cast application. After discharge, the patients were followed up for a mean of 30 months. Clinico-radiological results were excellent in four patients. One case necessitated closed reduction and percutaneous K-wire fixation at one week follow-up due to failed reduction. Cubitusvarus deformity was the only complication noted in 1 case. Good functional outcome can be expected in newborns with fracture-separation of the distal humeral epiphysis wherein the physis is anatomically reduced.

  13. Kissing aneurysms of the distal anterior cerebral artery.

    Science.gov (United States)

    Choi, Chan-Young; Han, Seong-Rok; Yee, Gi-Taek; Lee, Chae-Heuck

    2011-02-01

    Kissing aneurysms, a particular type of multiple aneurysm are rare. A kissing aneurysms was identified at the distal anterior cerebral artery (ACA) in a 59-year-old male patient diagnosed with subarachnoid hemorrhage (SAH). The use of three-dimensional intracranial CT angiograms revealed that kissing aneurysms (that is, an aneurysm with a bilateral symmetrical mirror image) were located at the distal ACA and diffuse SAH in basal, sylvian, and interhemispheric cisterns. Both conventional carotid angiograms showed that both distal ACA aneurysms were seen separately on both internal carotid angiograms. Two aneurysms were observed simultaneously on carotid compression of either side. Some particular cautions required in diagnosing and treating kissing aneurysms are discussed, together with a literature review. Copyright © 2010. Published by Elsevier Ltd.

  14. Transcriptional organization of a 450-kb region of the human X chromosome in Xq28

    Energy Technology Data Exchange (ETDEWEB)

    Bione, S.; Tamanini, F.; Maestrini, E.; Tribioli, C.; Rivella, S.; Toniolo, D. (Instituto di Genetica Biochimica ed Evoluzionistica, Pavia (Italy)); Poustka, A. (German Cancer Research Center, Heidelberg (Germany))

    1993-11-15

    In this paper, the authors report the transcriptional organization of a 450-kb gene cluster in Xq28, flanked by the glucose-6-phosphate dehydrogenase and the color vision genes. CpG islands previously identified and mapped to distal Xq28 have helped in construction of a continuous contig of cosmids and in identification of cDNAs corresponding to eight transcripts. Thirteen to 16 small genes with CpG islands are clustered in a region of 250-300 kb. Many are highly expressed in muscle or brain and may be the genes responsible for muscle or neurological disorders mapped to distal Xq28. The analysis indicates that, in this region of the genome, genes not related in sequence are organized in transcriptional domains of 100 kb and that this organization may be important for establishing and regulating gene expression in relation to tissue distribution and X chromosome inactivation.

  15. Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.

    Science.gov (United States)

    Bione, S; Tamanini, F; Maestrini, E; Tribioli, C; Poustka, A; Torri, G; Rivella, S; Toniolo, D

    1993-12-01

    In this paper, we report the transcriptional organization of a 450-kb gene cluster in Xq28, flanked by the glucose-6-phosphate dehydrogenase and the color vision genes. CpG islands previously identified and mapped to distal Xq28 have helped in construction of a continuous contig of cosmids and in identification of cDNAs corresponding to eight transcripts. Thirteen to 16 small genes with CpG islands are clustered in a region of 250-300 kb. Many are highly expressed in muscle or brain and may be the genes responsible for muscle or neurological disorders mapped to distal Xq28. Our analysis indicates that, in this region of the genome, genes not related in sequence are organized in transcriptional domains of 100 kb and that this organization may be important for establishing and regulating gene expression in relation to tissue distribution and X chromosome inactivation.

  16. Ribosomal DNA is active in different B chromosome variants of the grasshopper Eyprepocnemis plorans.

    Science.gov (United States)

    Ruíz-Estévez, Mercedes; López-León, M Dolores; Cabrero, Josefa; Camacho, Juan Pedro M

    2013-09-01

    B chromosomes are considered to be genetically inert elements. However, some of them are able to show nucleolus organizer region (NOR) activity, as detected by both cytological and molecular means. The grasshopper Eyprepocnemis plorans shows a B chromosome polymorphism characterized by the existence of many B variants. One of them, B24, shows NOR activity in about half of B-carrying males in the Torrox population. Molecular data have suggested the recent origin for B chromosomes in this species, and on this basis it would be expected that NOR activity was widespread among the different B variants. Here we test this hypothesis in four different B chromosome variants (B1, B2, B5, and B24) from 11 natural populations of the grasshopper E. plorans covering the south and east of the Iberian Peninsula plus the Balearic Islands. We used two different approaches: (1) the cytological observation of nucleoli attached to the distal region of the B chromosome (where the rDNA is located), and (2) the molecular detection of the rDNA transcripts carrying an adenine insertion characteristic of B chromosome ITS2 sequences. The results showed NOR expression not only for B24 but also for the B1 and B2 variants. However, the level of B-NOR expression in these latter variants, measured by the proportion of cells showing nucleoli attached to the B chromosomes, was much lower than that previously reported for B24. This suggests the possibility that structural or genetic background conditions are enhancing the expressivity of the rDNA in the B24 variant.

  17. The direct lateral approach to the distal tibia and fibula: a single incision technique for distal tibial and pilon fractures.

    Science.gov (United States)

    Femino, John E; Vaseenon, Tanawat

    2009-01-01

    Distal tibia fractures remain difficult injuries to treat when fracture displacement precludes non-operative treatment. Different methods of treatment including limited internal fixation with external fixation, as well as open reduction and internal fixation have been recommended. Open reduction and internal fixation is often favored for the improved ability to anatomically reduce displaced fractures, particularly articular fractures. However, wound complications due to the associated trauma to the fragile soft tissue envelope in this region continue to be a significant concern.The authors present a surgical approach for open reduction and fixation of distal tibia and fibula fractures through a single lateral incision, which respects the angiosomes of the distal leg and ankle. This can, in some cases, resolve the need to delay ORIF of the tibia since the incision is essentially the same as that used for the immediate ORIF of fibula fractures, which is commonly used in the staged treatment of distal tibial and plafond fractures. This approach can be extended proximally and distally to allow treatment of other injuries about the ankle and hindfoot. Illustrative cases are provided.

  18. Reverse telescoping in distal skarns at Campiglia Marittima (Italy)

    Science.gov (United States)

    Vezzoni, Simone; Dini, Andrea; Rocchi, Sergio

    2014-05-01

    Skarn deposits commonly results from the metasomatic alteration of a rock, usually carbonate-rich, by infiltration of hydrothermal fluids. Most carbonate-hosted skarn deposits show a direct spatial relationship with magmatic intrusions and an intimate relationship with porphyry copper deposits. Their primary mineralogical and geochemical features indicate metasomatism by high-temperature magmatic fluids. Conversely, many distal Pb-Zn-Ag skarns pose an important challenge because there is no apparent association with magmatic intrusions and external, meteoric and/or basinal fluids should become increasingly dominant with increasing distance from the igneous source. Nevertheless recent investigation of distal skarn deposits indicates that ore-forming fluids match the composition of proximal magmatic fluids in granitoid-related mineral deposits. Besides that metal producer (Pb, Zn, Ag, Cu, Fe, W, Sn), skarn deposits can be key to understanding fluid dynamics at the periphery of magmatic-hydrothermal systems, unraveling pathways to hidden ore deposits (e.g porphyry copper). In this scenario, research on distal skarns opens new perspectives for deep mineral exploration and/or modeling of intrusion centered geothermal systems, because they should represent the outer limit of the hydrothermal system dominated by magmatic aqueous fluids. Here we present exceptional evidences from a distal Pb-Zn-Ag skarn deposit in Campiglia Marittima, Italy, where the magma, after having released the metasomatic fluids, fled up chasing its own fluid stream and invading large pockets of the newly formed skarn bodies at shallower level. Detailed underground mapping and petrologic data indicate that, after the formation of a typical distal Pb-Zn-Ag skarn, the intrusion of the parent magma produced prograde reactions in the skarn silicates, mobilization of the Pb-Zn-Ag sulfides and precipitation of a new Cu-Fe sulfide assemblage. This is a very unusual case of reverse telescoping during which

  19. Unstable Distal Radius Fractures Treated by Volar Locking Anatomical Plates

    Science.gov (United States)

    Jose, Anto; Deniese, Pascal Noel; Babu, Abey Thomas; Rengasamy, Kanagasabai; Najimudeen, Syed

    2017-01-01

    Introduction Fracture of the distal end of radius represents the most common fracture of the upper extremity accounting for 16-20% of all fractures. Plating is now emerging as the gold standard for management of distal radius fractures due to increased rate of complications such as malunion, subluxation/dislocation of distal radio-ulnar joint or late collapse of fracture. Procedures such as closed reduction and cast immobilization, ligamentotaxis with external fixator and percutaneous pin fixation are no longer acceptable. Aim The purpose of the study was to evaluate the functional and radiological outcome of unstable distal radius fractures treated with the volar locking plate. Materials and Methods We reviewed 53 patients from January 2011 to December 2015, treated for unstable distal radius fractures using a volar locking compression plate. Standard radiographic and clinical assessment after 12 months (range 12-16 months) were measured and final functional and radiological outcome were assessed using the Modified Mayo wrist scoring system and Sarmiento’s modification of Lindstorm criteria respectively. Results There were 42 males and 11 females with an average age of 39.12±31.78 years (18-71 years). At the end of 12 months, 36 patients had an excellent radiological outcome and 10 patients had good radiological outcome as per Sarmiento’s modification of Lindstorm criteria. Eleven patients had an excellent functional outcome and 26 patients had a good functional outcome as per modified Mayo wrist scoring system. There was one case of superficial wound infection which subsided with intravenous antibiotics. Conclusion The volar locking plate fixation helps in early mobilization of the wrist, restores anatomy, allows early return to function, prevents secondary loss of reduction and hence is an effective treatment for unstable fractures of the distal radius. PMID:28274009

  20. Traumatisk distal humerus-epifysiolyse hos nyfødt

    DEFF Research Database (Denmark)

    Al-Aubaidi, Zaid; Nielsen, Keld Daubjerg

    2010-01-01

    Traumatic distal humerus epiphysiolysis (TDHE) is a rare injury in infants with an incidence of about 1:35,000 births. It is primarily a birth injury, but it is also seen in cases of battered child syndrome. Because of its rare occurrence and the diagnostic difficulties, the lesion may be overloo......Traumatic distal humerus epiphysiolysis (TDHE) is a rare injury in infants with an incidence of about 1:35,000 births. It is primarily a birth injury, but it is also seen in cases of battered child syndrome. Because of its rare occurrence and the diagnostic difficulties, the lesion may...

  1. Modified distal shoe appliance--fabrication and clinical performance.

    Science.gov (United States)

    Gujjar, Kumar Raghav; Indushekar, K R; Amith, H V; Sharma, Shefali Li

    2012-01-01

    When the primary second molar is prematurely lost, mesial movement and migration of the permanent first molar often occurs. This is one of the most difficult problems of the developing dentition confronted by pediatric dentists. Use of a space maintainer that will guide the permanent first molar into its normal position is indicated. In cases with bilateral premature loss of primary molars, the conventional design of distal shoe poses a variety of problems and, therefore, necessitates a customized design for the eruption guidance of permanent first molars. The purpose of this case report is to discuss an innovative design of a distal shoe appliance, which was used with good clinical results.

  2. Distal protection devices during percutaneous coronary and carotid interventions.

    Science.gov (United States)

    Fasseas, Panayotis; Orford, James L; Denktas, Ali E; Berger, Peter B

    2001-01-01

    Distal embolization of particulate matter complicates percutaneous coronary and peripheral interventions more often than had been recognized until recently. A number of distal protection devices are under development. The PercuSurge GuardWiretrade mark is a balloon occlusion thrombectomy device approved by the United States Food and Drug Administration for saphenous vein graft intervention. A number of filter devices utilize an expandable filter mounted on the angioplasty guidewire to facilitate entrapment of particles and safe removal. The Parodi Anti-Emboli Systemtrade mark is an example of a catheter occlusion device that establishes protection by reversing blood flow in the target vessel.

  3. Distal protection devices during percutaneous coronary and carotid interventions

    Directory of Open Access Journals (Sweden)

    Berger Peter B

    2001-11-01

    Full Text Available Abstract Distal embolization of particulate matter complicates percutaneous coronary and peripheral interventions more often than had been recognized until recently. A number of distal protection devices are under development. The PercuSurge GuardWire™ is a balloon occlusion thrombectomy device approved by the United States Food and Drug Administration for saphenous vein graft intervention. A number of filter devices utilize an expandable filter mounted on the angioplasty guidewire to facilitate entrapment of particles and safe removal. The Parodi Anti-Emboli System™ is an example of a catheter occlusion device that establishes protection by reversing blood flow in the target vessel.

  4. Galeazzi fracture with volar dislocation of the distal radioulnar joint.

    Science.gov (United States)

    Kim, Suezie; Ward, James P; Rettig, Michael E

    2012-11-01

    Galeazzi fracture dislocations are fractures of the distal one-third of the radial diaphysis with traumatic disruption of the distal radioulnar joint (DRUJ). This injury results in subluxation or dislocation of the ulnar head. We present a case of a Galeazzi fracture with a volar dislocation of the DRUJ. Open reduction of the DRUJ with Kirschner wire fixation in pronation was necessary to reduce the joint and maintain anatomic alignment. Repair of the triangular fibrocartilage complex was also necessary to maintain stability of the DRUJ.

  5. Supramalleolar Osteotomies for Posttraumatic Malalignment of the Distal Tibia.

    Science.gov (United States)

    Krause, Fabian; Veljkovic, Andrea; Schmid, Timo

    2016-03-01

    Supramalleolar osteotomies of the tibia (SMOT) for posttraumatic distal tibial malalignment has shown to reduce pain, improve function and radiographic signs of osteoarthritis, and delay ankle arthrodesis or total joint replacement. The procedure also protects the articular cartilage from further degenerative processes by shifting and redistributing loads in the ankle joint. It is technically demanding and requires extensive preoperative planning. The type of osteotomy (opening vs closing wedge) does not influence the final outcome. However, based on the limited evidence, a grade I treatment recommendation has been given for supramalleolar osteotomies of the tibia to treat mild to moderate ankle arthritis in the presence of distal tibial malalignment.

  6. Neglected Distal Humeral Epiphyseal Injury - Two Case Reports

    Directory of Open Access Journals (Sweden)

    Dr. Pankaj Kumar

    2008-07-01

    Full Text Available Distal humeral epiphyseal separation is an uncommon injury in children, which can be missed or misdiagnosed at initial presentation. Awareness of this injury and appropriate radiological assessment helps in proper management. Neglected cases because of inappropriate diagnosis can result in cubitus varus deformity. Full range of movements of elbow can be achieved if properly diagnosed and managed. We present two cases of neglected distal humeral epiphyseal injury in children that resulted in cubitus varus deformity in one case. Full range of movements was achieved in both cases after proper management.

  7. Parvalbumin: calcium and magnesium buffering in the distal nephron

    OpenAIRE

    Olinger, Eric; Schwaller, Beat; Loffing, Johannes; Gailly, Philippe; Devuyst, Olivier

    2017-01-01

    Parvalbumin (PV) is a classical member of the EF-hand protein superfamily that has been described as a Ca²⁺ buffer and Ca²⁺ transporter/shuttle protein and may also play an additional role in Mg²⁺ handling. PV is exclusively expressed in the early part of the distal convoluted tubule in the human and mouse kidneys. Recent studies in Pvalb knockout mice revealed a role of PV in the distal handling of electrolytes: the lack of PV was associated with a mild salt-losing phenotype with secondary a...

  8. Dome-shaped osteotomy for distal radius fracture malunions.

    Science.gov (United States)

    Brunelli, Giorgio A

    2003-06-01

    After having hinted to the various component of the malformity caused by malunions of the distal radius fracture, the various possibilities of correcting this deformity are described. The difficulty to correct all the components of the deformity are considered. Then a Dome-shaped osteotomy of the distal radius is described that allows to correct all the deformities in all the directions as the gliding plane of the osteotomy is spherical. The ulnar plus and the DRUJ alterations are corrected by means of an added Sauvé-Kapandji procedure that guarantees against any painful movement of the DRUJ preserving effective prono-supination.

  9. Nontraumatic osteonecrosis of the distal pole of the scaphoid

    Directory of Open Access Journals (Sweden)

    Bhavuk Garg

    2011-01-01

    Full Text Available Post traumatic osteonecrosis of distal pole of scaphoid is very rare. We present a case of 34 years old male, drill operator by occupation with nontraumatic osteonecrosis of distal pole of the scaphoid. The patient was managed conservatively and was kept under regular follow-up every three months. The patient was also asked to change his profession. Two years later, the patient had no pain and had mild restriction of wrist movements (less than 15 degrees in either direction. The radiographs revealed normal density of the scaphoid suggesting revascularization.

  10. Distal rupture of the adductor longus in a skier.

    Science.gov (United States)

    Greditzer, Harry G; Nawabi, Danyal; Li, Angela Eh; Jawetz, Shari T

    Acute adductor longus ruptures occur infrequently and have been rarely described in the literature. Schlegel et al. reviewed a series of adductor longus tendon ruptures and found that all ruptured proximally. A 42-year-old man with right hip pain 3 weeks following a skiing injury underwent magnetic resonance imaging (MRI), which demonstrated a distal adductor longus avulsion. The diagnosis of acute adductor longus injury can be difficult on physical examination alone, but MRI can accurately depict the site of injury. Surgery may be indicated for a proximal avulsion, but a distal injury may heal with nonoperative treatment, as in our case. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. Locking plates in distal humerus fractures: study of 43 patients

    Institute of Scientific and Technical Information of China (English)

    Rakesh Kumar Gupta; Vinay Gupta; Dickey Richard Marak

    2013-01-01

    Objective:The treatment of multifragmentary,intraarticular fractures of the distal humerus is difficult,even in young patients with bone of good quality.Small distal fragment,diminished bone mineral quality and increased trauma-associated joint destruction make stable joint reconstruction more problematic.The anatomically preshaped locking plates allow angular stable fixation for these complex fractures.We evaluated functional results of patients treated with open reduction and internal fixation with distal humerus locking plates for complex distal humerns fractures.Methods:Forty-three consecutive patients with articular fractures of the distal humerus were treated by open reduction and internal fixation with AO distal humerus plate system and locking reconstruction plates.Forty patients were available for the final outcome analysis.According to AO/ASIF classification,there were 2 cases of type A2,4 cases of type A3,1 case of type B1,1 case of type B2,14 cases of type C1,7 cases of type C2 and 11 cases of type C3.Open reduction with triceps splitting technique was used in all patients.The clinical and radiographic follow-up was performed and outcome measures included pain assessment,range of motion,and Mayo elbow performance score.Results:Forty patients were available for the final outcome analysis.There were 29 males and 11 females with an average age of 38.4 years (18-73 years).Clinical and radiological consolidation of the fracture was observed in all cases at an average of 11.6 weeks (9-14 weeks).The average follow-up was 12 months (10-18 months).Using the Mayo elbow performance score the results obtained were graded as excellent or good results in 33 patients (82.5%).One patient had superficial infection,and 4 had myositis ossificans.There were no cases of primary malposition or secondary displacement,implant failure or ulnar neuropathy.Conclusion:Anatomically preshaped distal humerus locking plate system is useful in providing stable fixation for complex

  12. Metastatic thyroid carcinoma presenting as distal spinal cord compression.

    Science.gov (United States)

    Goldstein, S I; Kaufman, D; Abati, A D

    1988-01-01

    The prognosis of metastatic thyroid carcinoma is dependent on the age of the patient, the histologic characteristics of the neoplasm, and the site of metastasis. A more favorable prognosis is found in patients less than 40 years old with follicular carcinoma and without any bony metastases. Metastatic thyroid carcinoma presenting as distal spinal cord compression is extremely rare. We report one such case and review the literature. As reported in the literature, the combination of decompressive laminectomy followed by total thyroidectomy and radioactive iodine therapy has proved to be effective in the treatment of patients with thyroid carcinoma metastatic to the distal vertebral bodies.

  13. Distal renal tubular acidosis and amelogenesis imperfecta: A rare association

    Directory of Open Access Journals (Sweden)

    P Ravi

    2013-01-01

    Full Text Available Renal tubular acidosis (RTA is characterized by a normal anion gap with hyperchloremic metabolic acidosis. Primary distal RTA (type I is the most common RTA in children. Childhood presentation of distal RTA includes vomiting, failure to thrive, metabolic acidosis, and hypokalemia. Amelogenesis imperfecta (AI represents a condition where the dental enamel and oral tissues are affected in an equal manner resulting in the hypoplastic or hypopigmented teeth. We report a 10-year-old girl, previously asymptomatic presented with the hypokalemic paralysis and on work-up found out to have type I RTA. The discoloration of teeth and enamel was diagnosed as AI.

  14. Locking plates in distal humerus fractures: study of 43 patients

    Directory of Open Access Journals (Sweden)

    Gupta Rakesh Kumar

    2013-08-01

    Full Text Available 【Abstract】Objective: The treatment of multi-fragmentary, intraarticular fractures of the distal humerus is difficult, even in young patients with bone of good quality. Small distal fragment, diminished bone mineral quality and increased trauma-associated joint destruction make stable joint reconstruction more problematic. The anatomically preshaped locking plates allow angular stable fixation for these complex fractures. We evaluated functional results of patients treated with open reduction and internal fixation with distal humerus locking plates for complex distal hu-merus fractures. Methods: Forty-three consecutive patients with ar-ticular fractures of the distal humerus were treated by open reduction and internal fixation with AO distal humerus plate system and locking reconstruction plates. Forty patients were available for the final outcome analysis. According to AO/ASIF classification, there were 2 cases of type A2, 4 cases of type A3, 1 case of type B1, 1 case of type B2, 14 cases of type C1, 7 cases of type C2 and 11 cases of type C3. Open reduction with triceps splitting technique was used in all patients. The clinical and radiographic follow-up was performed and outcome measures included pain assessment, range of motion, and Mayo elbow performance score. Results: Forty patients were available for the final outcome analysis. There were 29 males and 11 females with an average age of 38.4 years (18-73 years. Clinical and ra-diological consolidation of the fracture was observed in all cases at an average of 11.6 weeks (9-14 weeks. The average follow-up was 12 months (10-18 months. Using the Mayo elbow performance score the results obtained were graded as excellent or good results in 33 patients (82.5%. One pa-tient had superficial infection, and 4 had myositis ossificans. There were no cases of primary malposition or secondary displacement, implant failure or ulnar neuropathy. Conclusion: Anatomically preshaped distal humerus locking

  15. Chromosome-specific families in Vibrio genomes

    Directory of Open Access Journals (Sweden)

    Oksana eLukjancenko

    2014-03-01

    Full Text Available We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences. These genomes come from 9 known species and 2 unknown species. Within the finished chromosomes, we find a core set of 1269 encoded protein families for chromosome 1, and a core of 252 encoded protein families for chromosome 2. Many of these core proteins are also found in the draft genomes (although which chromosome they are located on is unknown. Of the chromosome specific core protein families, 1169 and 153 are uniquely found in chromosomes 1 and 2, respectively. Gene ontology (GO terms for each of the protein families were determined, and the different sets for each chromosome were compared. A total of 363 different `Molecular Function` GO categories were found for chromosome 1 specific protein families, and these include several broad activities: pyridoxine 5' phosphate synthetase, glucosylceramidase, heme transport, DNA ligase, amino acid binding, and ribosomal components; in contrast, chromosome 2 specific protein families have only 66 Molecular Function GO terms and include many membrane-associated activities, such as ion channels, transmembrane transporters, and electron transport chain proteins. Thus, it appears that whilst there are many 'housekeeping systems' encoded in chromosome 1, there are far fewer core functions found in chromosome 2. However, the presence of many membrane-associated encoded proteins in chromosome 2 is surprising.

  16. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.

    Science.gov (United States)

    Ou, Zhishuo; Jarmuz, Małgorzata; Sparagana, Steven P; Michaud, Jacques; Décarie, Jean-Claude; Yatsenko, Svetlana A; Nowakowska, Beata; Furman, Patti; Shaw, Chad A; Shaffer, Lisa G; Lupski, James R; Chinault, A Craig; Cheung, Sau W; Stankiewicz, Paweł

    2006-09-01

    We report clinical findings and molecular cytogenetic analyses for two patients with translocations [t(14;17)(p12;p12) and t(15;17)(p12;p13.2)], in which the chromosome 17 breakpoints map at a large low-copy repeat (LCR) and a breakage-prone TRE-2 (USP6) oncogene, respectively. In family 1, a 6-year-old girl and her 5-year-old brother were diagnosed with mental retardation, short stature, dysmorphic features, and Charcot-Marie-Tooth disease type 1A (CMT1A). G-banding chromosome analysis showed a der(14)t(14;17)(p12;p12) in both siblings, inherited from their father, a carrier of the balanced translocation. Chromosome microarray and FISH analyses revealed that the PMP22 gene was duplicated. The chromosome 17 breakpoint was mapped within an approximately 383 kb LCR17pA that is known to also be the site of several breakpoints of different chromosome aberrations including the evolutionary translocation t(4;19) in Gorilla gorilla. In family two, a patient with developmental delay, subtle dysmorphic features, ventricular enlargement with decreased periventricular white matter, mild findings of bilateral perisylvian polymicrogyria and a very small anterior commissure, a cryptic duplication including the Miller-Dieker syndrome region was identified by chromosome microarray analysis. The chromosome 17 breakpoint was mapped by FISH at the TRE-2 oncogene. Both partner chromosome breakpoints were mapped on the short arm acrocentric heterochromatin within or distal to the rRNA cluster, distal to the region commonly rearranged in Robertsonian translocations. We propose that TRE-2 together with LCR17pA, located approximately 10 Mb apart, also generated the evolutionary gorilla translocation t(4;19). Our results support previous observations that the USP6 oncogene, LCRs, and repetitive DNA sequences play a significant role in the origin of constitutional chromosome aberrations and primate genome evolution.

  17. Genomic study of the critical region of chromosome 21 associated to Down syndrome

    Directory of Open Access Journals (Sweden)

    Julio César Montoya

    2011-03-01

    Full Text Available Introduction: Previous reports have identified a region of chromosome 21 known as Down ayndrome critical region (DSCR in which the expression of some genes would modulate the main clinical characteristics of this pathology. In this sense, there is currently limited information on the architecture of the DSCR associated.Objective: To obtain in silico a detailed vision of the chromatin structure associated with the evaluation of genomic covariables contained in public data bases.Methods: Taking as reference the information consigned in the National Center for Biotechnology Information, the Genome Browser from the University of California at Santa Cruz and from the HapMap project, a chromosome walk along 21 Mb of the distal portion of chromosome 21q arm was performed. In this distal portion, the number of single nucleotide polymorphisms (SNP, number of CpG islands, repetitive elements, recombination frequencies, and topographical state of that chromatin were recorded.Results: The frequency of CpG islands and Ref genes increased in the more distal 1.2 Mb DSCR that contrast with those localized near to the centromere. The highest level of recombination calculated for women was registered in the 21q22.12 to 22.3 bands. DSCR 6 and 9 genes showed a high percentage of methylation in CpG islands in DNA from normal and trisomic fibroblasts. The DSCR2 gene exhibited high levels of open chromatin and also methylation in some lysine residues of the histone H3 as relevant characteristics.Conclusion: The existence of a genomic environment characterized by high values of recombination frequencies and CpG methylation in DSCR 6 and 9 and also DSCR2 genes led us to postulate that in non-disjunction detected in Down syndrome, complex genomic, epigenetic and environmental relationships regulate some processes of meiosis.

  18. Genomic study of the critical region of chromosome 21 associated to Down syndrome

    Directory of Open Access Journals (Sweden)

    Julio César Montoya

    2011-04-01

    Full Text Available Introduction: Previous reports have identified a region of chromosome 21 known as Down ayndrome critical region (DSCR in which the expression of some genes would modulate the main clinical characteristics of this pathology. In this sense, there is currently limited information on the architecture of the DSCR associated. Objective: To obtain in silico a detailed vision of the chromatin structure associated with the evaluation of genomic covariables contained in public data bases. Methods: Taking as reference the information consigned in the National Center for Biotechnology Information, the Genome Browser from the University of California at Santa Cruz and from the HapMap project, a chromosome walk along 21 Mb of the distal portion of chromosome 21q arm was performed. In this distal portion, the number of single nucleotide polymorphisms (SNP, number of CpG islands, repetitive elements, recombination frequencies, and topographical state of that chromatin were recorded. Results: The frequency of CpG islands and Ref genes increased in the more distal 1.2 Mb DSCR that contrast with those localized near to the centromere. The highest level of recombination calculated for women was registered in the 21q22.12 to 22.3 bands. DSCR 6 and 9 genes showed a high percentage of methylation in CpG islands in DNA from normal and trisomic fibroblasts. The DSCR2 gene exhibited high levels of open chromatin and also methylation in some lysine residues of the histone H3 as relevant characteristics. Conclusion: The existence of a genomic environment characterized by high values of recombination frequencies and CpG methylation in DSCR 6 and 9 and also DSCR2 genes led us to postulate that in non-disjunction detected in Down syndrome, complex genomic, epigenetic and environmental relationships regulate some processes of meiosis.

  19. The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13

    Energy Technology Data Exchange (ETDEWEB)

    Lind, L.; Holmgren, G.; Lundstroem, A. [Umea Univ. (Sweden)

    1994-09-01

    Hereditary palmoplantar keratoderma (PPK) consists of a heterogeneous group of skin disorders characterized by hyperkeratosis (thickening of the uppermost layer of the epidermis, the stratum corneum), primarily of the palms and soles. Autosomal dominant diffuse PPK has been considered to exist in two types that are clinically similar but microscopically distinguishable: epidermolytic PPK and non-epidermolytic PPK. Recently, though, the existence of a purely hyperkeratotic PPK has been questioned. However, autosomal dominant diffuse non-epidermolytic PPK is a frequent disorder in Northern Sweden with a reported prevalence of 0.3-0.55% among school children. This Swedish variant of PPK does not show any sign of epidermolytic hyprekeratosis but instead the patients exhibit frequent dermatophyte infections, a complication rarely seen in epidermolytic PPK. We have examined two Swedish families with PPK and localized the causative genetic defect to a 14 cM interval on chromosome 12q11-q13, a region known to contain the keratin type II gene cluster as well as the retionic acid receptor {gamma} gene. The PPK variant investigated here is thus both clinically and genetically different from epidermolytic palmoplantar keratoderma which recently has been shown to result from mutations on chromosome 17q in the gene for the type I keratin 9.

  20. Distally based superficial sural artery flap for soft tissue coverage in the distal 2/3 of leg and foot

    Directory of Open Access Journals (Sweden)

    Kamath B

    2005-01-01

    Full Text Available Background: Skin coverage for defects in the lower 2/3 of leg, ankle region and posterior heel has always been a difficult challenge for reconstructive surgeon. Methods: We describe our experience with the distally based superficial sural artery flap coverage in 48 patients with moderate sized defects in these difficult areas. Results: One out of 48 flaps (in 48 patients was lost totally and 3 suffered marginal necrosis which did not require any secondary procedure. These complications could have been avoided by proper selection of cases and refining technical skills. Conclusion: This simple procedure could be an important and versatile tool for any reconstructive surgeon in providing skin coverage in the distal leg and proximal foot. Preservation of major arteries of the lower limb, minimal donor defect, relatively uninjured donor area in compound fracture or poly trauma involving distal leg are some of the advantages of the flap.

  1. Chromosome synteny in cucumis species

    Science.gov (United States)

    Cucumber, Cucumis sativus L. (2n = 2x = 14) and melon, C. melo L. (2n = 2x = 24) are two important vegetable species in the genus Cucumis (family Cucurbitaceae). Two inter-fertile botanical varieties with 14 chromosomes, the cultivated C. sativus var. sativus L. and the wild C. sativus var. hardwick...

  2. Chromosome Territory Modeller and Viewer.

    Science.gov (United States)

    Tkacz, Magdalena A; Chromiński, Kornel; Idziak-Helmcke, Dominika; Robaszkiewicz, Ewa; Hasterok, Robert

    2016-01-01

    This paper presents ChroTeMo, a tool for chromosome territory modelling, accompanied by ChroTeVi-a chromosome territory visualisation software that uses the data obtained by ChroTeMo. These tools have been developed in order to complement the molecular cytogenetic research of interphase nucleus structure in a model grass Brachypodium distachyon. Although the modelling tool has been initially created for one particular species, it has universal application. The proposed version of ChroTeMo allows for generating a model of chromosome territory distribution in any given plant or animal species after setting the initial, species-specific parameters. ChroTeMo has been developed as a fully probabilistic modeller. Due to this feature, the comparison between the experimental data on the structure of a nucleus and the results obtained from ChroTeMo can indicate whether the distribution of chromosomes inside a nucleus is also fully probabilistic or is subjected to certain non-random patterns. The presented tools have been written in Python, so they are multiplatform, portable and easy to read. Moreover, if necessary they can be further developed by users writing their portions of code. The source code, documentation, and wiki, as well as the issue tracker and the list of related articles that use ChroTeMo and ChroTeVi, are accessible in a public repository at Github under GPL 3.0 license.

  3. Chromosomal disorders and male infertility

    Institute of Scientific and Technical Information of China (English)

    Gary L Harton; Helen G Tempest

    2012-01-01

    infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family.Despite this,the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.Nevertheless,more and more genetic factors associated with infertility are being identified.This review will focus on our current understanding of the chromosomal basis of male infertility specifically:chromosomal aneuploidy,structural and numerical karyotype abnormalities and Y chromosomal microdeletions.Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans.Aneuploidy is predominantly maternal in origin,but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts.Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm.Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed,as well as the application of preimplantation genetic diagnosis (PGD) in such cases.Clinical recommendations where possible will be made,as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

  4. Chromosome 5 and Parkinson disease.

    Science.gov (United States)

    Foroud, Tatiana; Pankratz, Nathan; Martinez, Maria

    2006-10-01

    Parkinson disease (PD) is the second most common neurodegenerative disorder. Despite the identification of five causative genes, the majority of PD etiology is still unknown. A region on chromosome 5q is one of the few regions of the genome found linked in multiple studies of familial PD. Analyses were performed using genotypic data from two independent research studies to evaluate rigorously the evidence of linkage on chromosome 5. The combined sample consisting of 1238 affected individuals from 569 multiplex PD families were genotyped for a common set of 20 microsatellite markers spanning an 80 cM region on chromosome 5q. Two disease models were employed and model-free linkage analyses were performed to detect linkage to a PD susceptibility gene and also to detect linkage to a quantitative phenotype, age of onset of PD. There was little evidence of linkage using either a narrower or broader disease definition (lod <0.5). Analyses employing age of onset of PD as the phenotype produced a lod score of 1.8. These results in a very large sample of familial PD suggest that it is unlikely that a PD susceptibility gene is located on chromosome 5q. Evidence for a locus contributing to the age of onset of PD is modest at best (empirical P-value=0.07).

  5. CHROMOSOMAL MULTIPLICITY IN BURKHOLDERIA CEPACIA

    Science.gov (United States)

    We have used CHEF gel electrophoresis to screen preparations of large DNA from different Burkholderia cepacia isolates for the presence of DNA species corresponding to the linearized forms of the three chromosomes of 3.4,2.5, and 0.9 Mb identified in B. cepacia strain 17616. DNA ...

  6. Chromosomal disorders and male infertility.

    Science.gov (United States)

    Harton, Gary L; Tempest, Helen G

    2012-01-01

    Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified. This review will focus on our current understanding of the chromosomal basis of male infertility specifically: chromosomal aneuploidy, structural and numerical karyotype abnormalities and Y chromosomal microdeletions. Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans. Aneuploidy is predominantly maternal in origin, but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts. Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm. Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed, as well as the application of preimplantation genetic diagnosis (PGD) in such cases. Clinical recommendations where possible will be made, as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

  7. Sex chromosome rearrangements in Polyphaga beetles.

    Science.gov (United States)

    Dutrillaux, A M; Dutrillaux, B

    2009-01-01

    The presence of a parachute sex chromosome bivalent (Xyp) at metaphase I of male meiosis is a well-known characteristic of Coleoptera, present in almost all families of this order and assumed to represent their ancestral sex chromosome formula. Sex chromosomes appear to be manifold more frequently involved in inter-chromosomal rearrangements than the average of the nine autosomal pairs usually forming their karyotype. This leads to various formulae such as neo-sex, multiple sex and perhaps unique sex chromosomes. These rearrangements alter the intimate association between sex chromosomes and nucleolar proteins, which are usual components of the Xyp. Different situations, selected in a series of 125 mitotic and meiotic cytogenetic studies of Polyphaga beetle species, are reported and discussed, with the aim to improve our knowledge on the mechanisms of sex chromosome rearrangements, the relationships with nucleoli and the consequences on dosage compensation and chromosome segregation.

  8. Association of recurrent pregnancy loss with chromosomal ...

    African Journals Online (AJOL)

    EB

    Results: Parental chromosomal abnormality was detected in 28 cases (2.8% of all cases, 5.7% of the couples) most of which ... Key words: chromosomal abnormality, recurrent pregnancy loss, thrombophilia ..... significant role in infertility.

  9. Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development

    Science.gov (United States)

    Klar, Amar J. S.

    2016-01-01

    Genetic aberrations of several unlinked loci cause human congenital split hand/foot malformation (SHFM) development. Mutations of the DLX5 (distal-less) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result from heterozygous chromosomal aberrations of the region without mutating the DLX5 gene. To resolve this paradox, we invoke a chromosomal epigenetic mechanism for limb development. It is composed of a monochromatid gene expression phenomenon that we discovered in two fission yeasts with the selective chromosome copy segregation phenomenon that we discovered in mouse cells. Accordingly, one daughter cell inherits both expressed DLX5 copies while the other daughter inherits both epigenetically silenced ones from a single deterministic cell of the developing limb. Thus, differentiated daughter cells after further proliferation will correspondingly produce proximal/distal-limb tissues. Published results of a Chr. 7 translocation with a centromere-proximal breakpoint situated over 41 million bases away from the DLX locus, centromeric and DLX5-region inversions have satisfied key genetic and developmental biology predictions of the mechanism. Further genetic tests of the mechanism are proposed. We propose that the DNA double helical structure itself causes the development of sister cells' gene regulation asymmetry. We also argue against the conventionally invoked morphogen model of development. This article is part of the themed issue ‘Provocative questions in left–right asymmetry’. PMID:27821526

  10. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

    DEFF Research Database (Denmark)

    Loviglio, M N; Leleu, M; Männik, K

    2017-01-01

    Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phen...... similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts' maps could uncover functionally and clinically related genes.Molecular Psychiatry advance online publication, 31 May 2016; doi:10.1038/mp.2016.84....

  11. The human serotonin N-acetyltransferase (EC 2.3.1.87) gene (AANAT): Structure, chromosomal localization, and tissue expression

    Energy Technology Data Exchange (ETDEWEB)

    Coon, S.L.; Bernard, M.; Roseboom, P.H. [National Institutes of Health, Bethesda, MD (United States)] [and others

    1996-05-15

    Serotonin N-acetyltransferase (arylalkylamine N-acetyltransferase, AA-NAT, HGMW-approved symbol AANAT;EC 2.3.1.87) is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. We have found that the human AA-NAT gene spans {approx}2.5 kb, contains four exons, and is located at chromosome 17q25. The open reading frame encodes a 23.2-kDa protein that is {approx}80% identical to sheep and rat AA-NAT. The AA-NAT transcript ({approx}1 kb) is highly abundant in the pineal gland and is expressed at lower levels in the retina and in the Y79 retinoblastoma cell line. AA-NAT mRNA is also detectable at low levels in several brain regions and the pituitary gland, but not in several peripheral tissues examined. Brain and pituitary AA-NAT could modulate serotonin-dependent aspects of human behavior and pituitary function. 31 refs., 5 figs.

  12. Chromosome protein framework from proteome analysis of isolated human metaphase chromosomes.

    Science.gov (United States)

    Fukui, Kiichi; Uchiyama, Susumu

    2007-01-01

    We have presented a structural model of the chromosome based on its constituent proteins. Development of a method of mass isolation for intact human metaphase chromosomes and proteome analysis by mass spectrometry of the isolated chromosomal proteins enabled us to develop a four-layer structural model of human metaphase chromosomes. The model consists of four layers, each with different chromosomal protein sets, i.e., chromosome coating proteins (CCPs), chromosome peripheral proteins (CPPs), chromosome structural proteins (CSPs), and chromosome fibrous proteins (CFPs). More than 200 identified proteins have been classified and assigned to the four layers with each layer occupying a distinct region of the chromosome. CCPs are localized at the most outer regions of the chromosomes and they attach to the regions tentatively and occasionally. CCPs include mostly mitochondrial and cytoplasmic proteins, e.g., 70 kDa heat shock protein 9B and Hsp60. CPPs are also localized at the peripheral regions of the chromosomes, but as the essential part of the chromosomes. CPPs include nucleolin, lamin A/C, fibrillarin, etc. CSPs are the primary chromosomal structure proteins, and include topoisomerase IIalpha, condensin subunits, histones, etc. CFPs have a fibrous nature, e.g., beta-actin, vimentin, myosin II, tublin, etc. A data set of these proteins, which we developed, contains essential chromosome proteins with classified information based on this four-layer model and presents useful leads for further studies on chromosomal structure and function.

  13. Familial transmission of a ring chromosome 21

    DEFF Research Database (Denmark)

    Hertz, Jens Michael

    1987-01-01

    A ring chromosome 21 was found in a phenotypically normal mother and her son. The clinical findings in the son were bilateral retention of the testes and a slightly delayed puberty onset. Consequences of a ring formation of a chromosome 21 in phenotypically normal patients are presented...... and discussed, and the previously reported cases of familially transmitted G-group ring chromosomes are reviewed....

  14. Female meiotic sex chromosome inactivation in chicken

    NARCIS (Netherlands)

    S. Schoenmakers (Sam); E. Wassenaar (Evelyne); J.W. Hoogerbrugge (Jos); J.S.E. Laven (Joop); J.A. Grootegoed (Anton); W.M. Baarends (Willy)

    2009-01-01

    textabstractDuring meiotic prophase in male mammals, the heterologous X and Y chromosomes remain largely unsynapsed, and meiotic sex chromosome inactivation (MSCI) leads to formation of the transcriptionally silenced XY body. In birds, the heterogametic sex is female, carrying Z and W chromosomes (Z

  15. Halfmoon-sign in distal fractures of the humerus

    Energy Technology Data Exchange (ETDEWEB)

    Schild, H.; Mueller, H.A.; Schreiber, G.

    1981-11-01

    The halfmoon-sign is described. It consists of typically shaped fragments seen on the lateral view of the elbow in the area around the fossa radialis. With rare exceptions the halfmoon-sign is indicative of a fracture of the distal humerus in the coronal plane, mostly fractures of the capitulum humeri.

  16. Social Support Contributes to Outcomes following Distal Radius Fractures

    Directory of Open Access Journals (Sweden)

    Caitlin J. Symonette

    2013-01-01

    Full Text Available Background. Distal radius fractures are the most common fracture of the upper extremity and cause variable disability. This study examined the role of social support in patient-reported pain and disability at one year following distal radius fracture. Methods. The Medical Outcomes Study Social Support Survey was administered to a prospective cohort of 291 subjects with distal radius fractures at their baseline visit. Pearson correlations and stepwise linear regression models (F-to-remove 0.10 were used to identify whether social support contributes to wrist fracture outcomes. The primary outcome of pain and disability at one year was measured using the Patient Rated Wrist Evaluation. Results. Most injuries were low energy (67.5% and were treated nonoperatively (71.9%. Pearson correlation analysis revealed that higher reported social support correlated with improved Patient Rated Wrist Evaluation scores at 1 year, r(n=181=-0.22, P<0.05. Of the subscales within the Social Support Survey, emotional/informational support explained a significant proportion of the variance in 1-year Patient Rated Wrist Evaluation scores, R2=4.7%, F (1, 181 = 9.98, P<0.05. Conclusion. Lower emotional/informational social support at the time of distal radius fracture contributes a small but significant percentage to patient-reported pain and disability outcomes.

  17. Outcome Assessment after Aptis Distal Radioulnar Joint (DRUJ Implant Arthroplasty

    Directory of Open Access Journals (Sweden)

    Amir Reza Kachooei

    2014-09-01

    Distal radioulnar joint injuries are disabling and patients usually undergo one or more salvage surgeries prior to receiving an arthroplasty. The Scheker prosthesis has shown satisfactory results with 100% survival rate in all reports. The constrained design of this prosthesis gives enough stability to prevent painful subluxation.

  18. Non-compliance Appliances for Upper Molar Distalization: An Overview.

    Science.gov (United States)

    Noorollahian, Saeed; Alavi, Shiva; Shirban, Farinaz

    2015-01-01

    Tooth Size Arch-length Discrepancy (TSALD) is a common problem in orthodontics. Its clinical signs are tooth crowding, impaction and incisor proclination. The treatment options are dental arch expansion or tooth mass reduction (stripping or extraction). The "extraction versus non-extraction" controversy has been widely debated in the orthodontic literature. Distalization is a kind of arch expansion in anetro-posterior dimension. Several studies have evaluated both the therapeutic effectiveness and the side effects of the appliances for this method of space gaining. In some cases molar distalization is preferred, e.g., a patient with acceptable profile and skeletal pattern and half cusp Class II molar malocclusion or even less. In some cases molar distalization is the only way, e.g., the patient with previous upper premolar extraction and excessive overijet, or a skeletal Class III patient with previous upper premolar extraction needed upper anterior teeth retraction to create reverse overjet aspre surgical orthodontic decompensation. In this review article, we described non-compliance upper molar distalizing appliances.

  19. Traumatisk distal humerus-epifysiolyse hos nyfødt

    DEFF Research Database (Denmark)

    Al-Aubaidi, Zaid; Nielsen, Keld Daubjerg

    2010-01-01

    Traumatic distal humerus epiphysiolysis (TDHE) is a rare injury in infants with an incidence of about 1:35,000 births. It is primarily a birth injury, but it is also seen in cases of battered child syndrome. Because of its rare occurrence and the diagnostic difficulties, the lesion may be overloo...

  20. Distally Based Iliotibial Band Flap: Anatomic Study with Surgical Considerations.

    Science.gov (United States)

    Wong, Victor W; Higgins, James P

    2016-09-01

    Background Reconstruction of high-risk fascia, tendon, or ligament defects may benefit from vascularized tissue. The iliotibial band (ITB), a thick fibrous tract of connective tissue, serves as a potential donor site for free tissue transfer but its blood supply has not been thoroughly investigated. The aim of this anatomical study was to investigate the vascular supply to the distal ITB and its role as a free fascial flap. Methods We dissected 16 fresh-frozen cadaveric legs and injected latex into the superolateral geniculate artery (SLGA). A distal ITB fascial flap was designed and measurements were taken for flap dimensions, pedicle length and size, and SLGA perfusion territory. Results The SLGA perfused 11.5 ± 2.3 cm of distal ITB (proximal to the lateral femoral epicondyle) and provided 6.4 ± 0.7cm of pedicle length to the ITB flap. Conclusions Chimeric options to include bone (from the lateral femoral condyle), cartilage (from the lateral femoral trochlea), muscle (from vastus lateralis or biceps femoris), and skin are possible. Surgical harvest techniques are proposed, including preservation of ITB insertions to minimize lateral knee instability. Clinical validation is needed to determine the role of the distal ITB free fascial flap in reconstructive microsurgery.