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

Yusuf Ozkul; M Emre Atabek; Munis Dundar; Selim Kurtoglu; Cetin Saatci

doi:10.1016/s0003-3995(02)01139-5

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

Ann Genet. 2002 Oct-Dec;45(4):181-3. doi: 10.1016/s0003-3995(02)01139-5.

Authors

Yusuf Ozkul¹, M Emre Atabek, Munis Dundar, Selim Kurtoglu, Cetin Saatci

Affiliation

¹ Department of Genetics, School of Medicine, Erciyes University, 38039, Kayseri, Turkey

PMID: 12668164
DOI: 10.1016/s0003-3995(02)01139-5

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.

Publication types

Case Reports

MeSH terms

Child
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 2*
Female
Humans
Karyotyping
Translocation, Genetic*
Turner Syndrome / genetics*