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[Familial X-autosomal translocation t (X, 2)].

作者信息

Mashkova M V, Verlinskaia D K

出版信息

Tsitologiia. 1976 Jul;18(7):901-5.

PMID:982591
Abstract

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.

摘要

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