A Turner patient with a 45,X,t(1;2) (q41;p11.2) karyotype

Ozkul Y., ATABEK M. E., Dundar M., Kurtoglu S., Saatci C.

ANNALES DE GENETIQUE, vol.45, no.4, pp.181-183, 2002 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 45 Issue: 4
  • Publication Date: 2002
  • Doi Number: 10.1016/s0003-3995(02)01139-5
  • Journal Name: ANNALES DE GENETIQUE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.181-183
  • Erciyes University Affiliated: Yes

Abstract

The most common chromosomal anomaly is 45,X in the Turner syndrome. In addition to this, anomaly, mosaicism such as structural 46,X,i(Xq), 46,X,del(Xp), 46,X,r(X), 46,X,t(X;Y) and numerical 46XO/46,XX/47XXX are seen rather frequently. An infant with the Turner syndrome was found to have a karyotype 45X,t(1;2) (q41;p16) using high resolution banding. Based on our knowledge, we present the first case of 45X,t(1;2) (q41;p11.2), a karyotype in Turner's syndrome in the literature. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserved.