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Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.

Abstract：

:A girl with a prenatal 46,XY karyotype was born with a completely normal female phenotype, including uterus and histologically normal ovaries. In mice with a similar phenotype, the ablation of M33, an ortholog of Drosophila Polycomb, causes male-to-female sex reversal. The analysis of the human homolog of M33, Chromobox homolog 2 (CBX2), in this girl revealed loss-of-function mutations that allowed us, by placing CBX2 upstream of SRY, to add an additional component to the still incomplete cascade of human sex development.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Biason-Lauber A,Konrad D,Meyer M,DeBeaufort C,Schoenle EJ

doi

10.1016/j.ajhg.2009.03.016

subject

Has Abstract

pub_date

2009-05-01 00:00:00

pages

658-63

issue

5

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(09)00113-X

journal_volume

84

pub_type

杂志文章

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