ArticleHuman genetics1996
An analysis of Xq deletions.
Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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Who cites it
3 citing papers in PubMed.
- Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome.Journal of assisted reproduction and genetics · 2016Article
- Investigating the role of X chromosome breakpoints in premature ovarian failure.Molecular cytogenetics · 2012Article
- Article
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq monosomies, 11 due to terminal deletions and 3 secondary to X/autosome translocations. Three cases were mosaics with a XO cell line. In view of the possible role played by telomeres in chromosome segregation, we hypothesize a relationship between the loss of telomeric sequences in terminal deletions and the presence of 45,X cells. A correlation between phenotype and extent of deletion reveal that there is no correspondence between the size of the deletion and impairment of gonadal function. Turner stigmata are absent in patients without an XO cell line, when the breakpoint is distal to Xq24. A low birthweight is present whenever the breakpoint is at q22 or more proximal.
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Registered trials
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