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., Demiryılmaz F., Kucukaydin M.

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

  • Publication Type: Article / Article
  • Volume: 44 Issue: 1
  • Publication Date: 2001
  • Doi Number: 10.1016/s0003-3995(00)01034-0
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.5-8
  • Erciyes University Affiliated: Yes


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.