title: A Turner patient with a 45,X,t(1;2) (q41;p11.2) karyotype.
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.
authors.affiliation: Department of Genetics, School of Medicine, Erciyes University, 38039, Kayseri, Turkey
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Ozkul
authors.forename: M Emre
authors.initials: ME
authors.lastname: Atabek
authors.forename: Munis
authors.initials: M
authors.lastname: Dundar
authors.forename: Selim
authors.initials: S
authors.lastname: Kurtoglu
authors.forename: Cetin
authors.initials: C
authors.lastname: Saatci
mesh_terms: 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*