Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
Am J Hum Genet
; 84(5): 658-63, 2009 May.
Article
em En
| MEDLINE
| ID: mdl-19361780
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ovário
/
Proteínas Repressoras
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Disgenesia Gonadal 46 XY
Tipo de estudo:
Diagnostic_studies
Limite:
Animals
/
Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article