Fusion telomérique de deux chromosomes X par leurs bras courts chez une patiente présentant un syndrome de Turner atypique. [Telomeric fusion of the short arms of both X chromosomes in a patient presenting an atypical Turner syndrome.]
Details
Serval ID
serval:BIB_4F5BE79B3681
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Fusion telomérique de deux chromosomes X par leurs bras courts chez une patiente présentant un syndrome de Turner atypique. [Telomeric fusion of the short arms of both X chromosomes in a patient presenting an atypical Turner syndrome.]
Journal
Journal de Génétique Humaine
ISSN
0021-7743
Publication state
Published
Issued date
1980
Volume
28
Number
4
Pages
131-140
Language
french
Notes
Publication types: English Abstract ; Journal Article - Publication Status: ppublish
Abstract
A case of atypical Turner's syndrome with unusual karyotype is reported. The chromosome complements of the patient, studied with different banding techniques, is 45,XO/46,X,dic(X)(Xqter leads to p22::p22 leads to qter). In the literature 8 similar cases have been reported. Short stature and amenorrhea are the most constant findings. The mechanisms by which the observed chromosomal "rearrangement" can be produced are briefly discussed.
Keywords
Adult, Chromosome Banding, Chromosomes, Female, Humans, Sex Chromosome Aberrations, Turner Syndrome
Pubmed
Web of science
Create date
22/05/2009 8:26
Last modification date
20/08/2019 14:05
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