Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
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SUBMITTER: Biason-Lauber A
PROVIDER: S-EPMC2680992 | biostudies-literature | 2009 May
REPOSITORIES: biostudies-literature
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Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
Biason-Lauber Anna A Konrad Daniel D Meyer Monika M DeBeaufort Carine C Schoenle Eugen J EJ
American journal of human genetics 20090409 5
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 cascad ...[more]
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