نتایج جستجو برای: sex chromosome abnormality

تعداد نتایج: 456037  

Journal: :Journal of medical genetics 1967
M J Thorburn C G Miller P Dovey

Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaic...

2009
Claire Lemaitre Marilia D. V. Braga Christian Gautier Marie-France Sagot Eric Tannier Gabriel A. B. Marais

The human sex chromosomes have stopped recombining gradually, which has left five evolutionary strata on the X chromosome. Y inversions are thought to have suppressed X-Y recombination but clear evidence is missing. Here, we looked for such evidence by focusing on a region--the X-added region (XAR)--that includes the pseudoautosomal region and the most recent strata 3 to 5. We estimated and ana...

2006
MARIGOLD J. THORBURN

Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaic...

2016
Jennifer A. M. Graves

Comparative mapping and sequencing show that turnover of sex determining genes and chromosomes, and sex chromosome rearrangements, accompany speciation in many vertebrates. Here I review the evidence and propose that the evolution of therian mammals was precipitated by evolution of the male-determining SRY gene, defining a novel XY sex chromosome pair, and interposing a reproductive barrier wit...

Journal: :PLoS Genetics 2009
Joseph A. Ross James R. Urton Jessica Boland Michael D. Shapiro Catherine L. Peichel

Diverse sex-chromosome systems are found in vertebrates, particularly in teleost fishes, where different systems can be found in closely related species. Several mechanisms have been proposed for the rapid turnover of sex chromosomes, including the transposition of an existing sex-determination gene, the appearance of a new sex-determination gene on an autosome, and fusions between sex chromoso...

Journal: :Genome research 2016
Kimberly R Kukurba Princy Parsana Brunilda Balliu Kevin S Smith Zachary Zappala David A Knowles Marie-Julie Favé Joe R Davis Xin Li Xiaowei Zhu James B Potash Myrna M Weissman Jianxin Shi Anshul Kundaje Douglas F Levinson Philip Awadalla Sara Mostafavi Alexis Battle Stephen B Montgomery

The X Chromosome, with its unique mode of inheritance, contributes to differences between the sexes at a molecular level, including sex-specific gene expression and sex-specific impact of genetic variation. Improving our understanding of these differences offers to elucidate the molecular mechanisms underlying sex-specific traits and diseases. However, to date, most studies have either ignored ...

2018
Risa Ieda Sho Hosoya Shota Tajima Kazufumi Atsumi Takashi Kamiya Aoi Nozawa Yuma Aoki Satoshi Tasumi Takashi Koyama Osamu Nakamura Yuzuru Suzuki Kiyoshi Kikuchi

There is increasing evidence for frequent turnover in sex chromosomes in vertebrates. Yet experimental systems suitable for tracing the detailed process of turnover are rare. In theory, homologous turnover is possible if the new sex-determining locus is established on the existing sex-chromosome. However, there is no empirical evidence for such an event. The genus Takifugu includes fugu (Takifu...

Journal: :Journal of medical genetics 1966
A B Bain I K Gauld

Case Report Maternal History. The father and mother were both aged 39 and were first cousins. There was no maternal history of radiation. This was the seventh pregnancy. She had had a previous stillbirth, but all babies with the exception of the present had been born at home. The 5 children, aged from 3 to i6 years, were alive and well. A normal live child was born to the parents I9 months afte...

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