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

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


	Document type :	Scientific journals : Article
	Discipline(s) :	Human health sciences : Multidisciplinary, general & others
	To cite this reference:	http://hdl.handle.net/10993/27188

Title :	Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
Language :	English
Author, co-author :	Biason-Lauber, Anna [> >]
	Konrad, Daniel [> >]
	Meyer, Monika [> >]
	De Beaufort, Carine [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) >]
	Schoenle, Eugen J. [> >]
Publication date :	2009
Journal title :	American journal of human genetics
Volume :	84
Issue/season :	5
Pages :	658-663
Peer reviewed :	Yes (verified by ORBi^lu)
ISSN :	0002-9297
e-ISSN :	1537-6605
Country :	United States
Keywords :	[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
Abstract :	[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.
Permalink :	http://hdl.handle.net/10993/27188

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