A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) karyotype

Authors
Dundar, M Lowther, G Acar, H Kurtoglu, S Demiryilmaz, F Kucukaydin, M
Citation
M. Dundar et al., A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) karyotype, ANN GENET, 44(1), 2001, pp. 5-8
Citations number
6
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
44
Issue
1
Year of publication
2001
Pages
5 - 8
Database
ISI
SICI code
0003-3995(200101/03)44:1<5:ACOAGP>2.0.ZU;2-3
Abstract
An infant with ambiguous genitalia was found to have a karyotype 45,X/46,X, r(Y)(p11.2;q11.23)/47,X, idic(Y)(p11.2),idic(Y)(p11.2) using G-banding, C-b anding and FISH. Examination of the genitalia revealed a phallus measuring 1.5 cm in length and 0.5 cm wide with perineal orifice. Subtle phenotypic f eatures consistent with Turner syndrome were not present. Genital ultrasono graphy revealed the presence of an infantile uterus. Endoscopy of the vagin a, uterus and cervix appeared normal. (C) 2001 Editions scientifiques et me dicales Elsevier SAS.