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


Dundar M., Lowther G., Acar H., Kurtoglu S., Demiryilmaz F., Kucukaydin M.

ANNALES DE GENETIQUE, vol.44, no.1, pp.5-8, 2001 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 1
  • Publication Date: 2001
  • Doi Number: 10.1016/s0003-3995(00)01034-0
  • Title of Journal : ANNALES DE GENETIQUE
  • Page Numbers: pp.5-8

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-banding 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 features consistent with Turner syndrome were not present. Genital ultrasonography revealed the presence of an infantile uterus. Endoscopy of the vagina, uterus and cervix appeared normal. (C) 2001 Editions scientifiques et medicales Elsevier SAS.