Reference : Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2...
Scientific journals : Article
Human health sciences : Multidisciplinary, general & others
Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
Biason-Lauber, Anna [> >]
Konrad, Daniel [> >]
Meyer, Monika [> >]
De Beaufort, Carine mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) >]
Schoenle, Eugen J. [> >]
American journal of human genetics
Yes (verified by ORBilu)
United States
[en] Animals ; Child ; Child, Preschool ; Disorders of Sex Development ; Female ; Gonadal Dysgenesis, 46,XY/diagnosis ; Humans ; Karyotyping ; Male ; Mice ; Mutation ; Ovary/anatomy & histology/metabolism ; Phenotype ; Polycomb Repressive Complex 1 ; Polycomb-Group Proteins ; Prenatal Diagnosis ; Repressor Proteins/genetics/metabolism ; Sex Determination Processes
[en] 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.

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