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A Turner patient with a 45,X,t(1;2) (q41;p11.2) karyotype
Yusuf Ozkul1, M Emre Atabek, Munis Dundar
1Department of Genetics, School of Medicine, Erciyes University, 38039, Kayseri, Turkey
Annales De Genetique
|April 2, 2003
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.