A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221)

A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221)

Infertility affects about 15% of couples of childbearing age. About half of these cases can be attributed predominantly to a male factor, such as a quantitative or qualitative impairment in spermatogenesis. The first-line genetic screening for non-obstructive azoospermia is limited to karyotyping (t...

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Bibliographic Details
Main Authors: Arthur Clement, Théo Dominot, Jeremy Chammas, Martine Montagnon, Marie Delcroix, Jérôme Pfeffer, Jean Michel Dupont, Aziza Lebbar, Patrice Clement, François Vialard
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Genes
Subjects:
46,XX <i>SRY</i>-positive male syndrome
chromosomal rearrangement
short stature
sex chromosome mosaic
Online Access:https://www.mdpi.com/2073-4425/14/1/81

Internet

https://www.mdpi.com/2073-4425/14/1/81

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