Sex reversal in a child with the karyotype 46,XY, dup (1) (p22.3p32.3)

P Wieacker; D Missbach; S Jakubiczka; S Borgmann; N Albers

doi:10.1111/j.1399-0004.1996.tb03786.x

Sex reversal in a child with the karyotype 46,XY, dup (1) (p22.3p32.3)

Clin Genet. 1996 May;49(5):271-3. doi: 10.1111/j.1399-0004.1996.tb03786.x.

Authors

P Wieacker¹, D Missbach, S Jakubiczka, S Borgmann, N Albers

Affiliation

¹ Institut für Humangenetik, Otto-von-Guericke Universität, Magdeburg, Germany.

PMID: 8832137
DOI: 10.1111/j.1399-0004.1996.tb03786.x

Abstract

The karyotype 46,XY, dup(1) (p22.3p32.3) was found in a 10-year-old patient with sex reversal, mental retardation and multiple dysmorphic features. In other cases with duplication 1p but different breakpoints cryptorchidism and genital ambiguity have been observed suggesting the dosage effect of a locus in 1p involved in sex differentiation.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Child
Disorders of Sex Development*
Female
Gonadal Dysgenesis, 46,XY*
Humans
Karyotyping
Male