A Turner patient with a 45,X,t(1;2) (q41;p11.2) karyotype.
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.
Ozkul
Yusuf
Y
Department of Genetics, School of Medicine, Erciyes University, 38039, Kayseri, Turkey
Atabek
M Emre
ME
Dundar
Munis
M
Kurtoglu
Selim
S
Saatci
Cetin
C
D002648:Child; D002878:Chromosomes, Human, Pair 1; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007621:Karyotyping; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics*