[Familial X-autosomal translocation t (X, 2)].
A loss of part of the short arm of the X-chromosome and a partial trisomy of chromosome 2 were detected in a girl with the Shereshevsky--Turner syndrome; her karyotype was 46, Xt (X,2) (Xqter leads to Xp11 : : 2q36 leads to 2q ter). The patient's mother had a balanced X-autosomal translocation 46, X,t, (X,2) (Xq ter leads to Xp11 : : 2q36 leads to 2q ter; 2p ter leads to 2q36 : : Xp11 leads to Xp ter). The daughter's abnormal X-chromosome was a late labelling one, while her mother had the late label in the normal X-chromosome.
D000293:Adolescent; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics*
Semeĭnaia X-autosomnaia translokatsiia t (X, 2)