Is cytogenetic diagnosis of 46,XX karyotype spontaneous abortion specimens erroneous? Fluorescence in situ hybridization as a confirmatory technique


Karaoguz M. , Nas T., Konac E. , Ince D., Pala E., Menevse S.

JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH, vol.31, no.6, pp.508-513, 2005 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 6
  • Publication Date: 2005
  • Doi Number: 10.1111/j.1447-0756.2005.00330.x
  • Title of Journal : JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH
  • Page Numbers: pp.508-513

Abstract

Aim: Performing the standard cytogenetic technique on spontaneous abortion material is still a valuable tool, but finding a normal 46,XX karyotype can confuse investigators and lead to a problem in diagnosis. This is mainly because it is possible for the female or male conceptus to retain contaminating maternal cells. To address this possibility, we used fluorescence in situ hybridization technique (FISH). X (DXZ1: p11.1-q11.1 region) and Y (DYZ3: p11.1-q11.1 region) chromosome alpha-satellite probes were employed to confirm the karyotypes previously diagnosed as 46,XX by our cytogenetic laboratory, or to verify the occurrence of 'Y chromosome component'.