SEX REVERSAL IN A CHILD WITH THE KARYOTYPE 46, XY, DUP(1) (P22.3P32.3)

Authors
WIEACKER P MISSBACH D JAKUBICZKA S ALBERS N
Citation
P. Wieacker et al., SEX REVERSAL IN A CHILD WITH THE KARYOTYPE 46, XY, DUP(1) (P22.3P32.3), Clinical genetics, 49(5), 1996, pp. 271-273
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
49
Issue
5
Year of publication
1996
Pages
271 - 273
Database
ISI
SICI code
0009-9163(1996)49:5<271:SRIACW>2.0.ZU;2-Q
Abstract
The karyotype 46,XY, dup(1) (p22.3p32.3) was found in a 10-year-old pa tient with sex reversal, mental retardation and multiple dysmorphic fe atures. In other cases with duplication 1p but different breakpoints c ryptorchidism and genital ambiguity have been observed suggesting the dosage effect of a locus in 1p involved in sex differentiation.