In:
International Journal of Molecular Sciences, MDPI AG, Vol. 24, No. 1 ( 2022-12-28), p. 494-
Kurzfassung:
A region of 160 kb at Xp21.2 has been defined as dosage-sensitive sex reversal (DSS) and includes the NR0B1 gene, considered to be the candidate gene involved in XY gonadal dysgenesis if overexpressed. We describe a girl with 46,XY partial gonadal dysgenesis carrying a 297 kb duplication at Xp21.2 upstream of NR0B1 initially detected by chromosomal microarray analysis. Fine mapping of the breakpoints by whole-genome sequencing showed a tandem duplication of TASL (CXorf21), GK and partially TAB3, upstream of NR0B1. This is the first description of an Xp21.2 duplication upstream of NR0B1 associated with 46,XY partial gonadal dysgenesis.
Materialart:
Online-Ressource
ISSN:
1422-0067
DOI:
10.3390/ijms24010494
Sprache:
Englisch
Verlag:
MDPI AG
Publikationsdatum:
2022
ZDB Id:
2019364-6
SSG:
12