母亲的13号与21号染色体易位[t(13;21)(q22;q22)]及其儿子的21号染色体单体和13号染色体部分三体(作者译)
[Translocation t (13:21) (q22:q22) in mother and monosomia 21 and partial trisomy 13 on her son (author's transl)].
作者信息
Prieto García F, Badía Garrabou L, Ferrer Calvette J
出版信息
An Esp Pediatr. 1977 Dec;10(12):927-32.
PMID:607844
Abstract
Clinical and cytogenetical findings in a case of 21pter leads to 21q22.1 monosomy associated to a partial trisomy 13 are presented. The patient's mother carries a translocation t(13;21) (q22;q22). R-banding has shown that q22 band of an apparently absent chromosome 21 is distally translocated in an extra-chromosome 13 (13q-)+. Therefore the proband's monosomy 21 is not complete, but partial.
摘要
本文报告了一例21号染色体短臂末端至21号染色体长臂22.1区单体性与13号染色体部分三体性相关的临床和细胞遗传学发现。患者的母亲携带t(13;21)(q22;q22)易位。R显带显示，一条明显缺失的21号染色体的q22带远端易位至一条额外的13号染色体(13q-)+上。因此，先证者的21号染色体单体性并非完全性，而是部分性的。
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