[由于母亲相互易位导致的1号染色体继发性三体]
[Secondary trisomy 1 q due to a reciprocal maternal translocation].
作者信息
Bourrouillou G, Colombies P, Blanc P
出版信息
C R Seances Soc Biol Fil. 1978;172(2):359-62.
PMID:150927
Abstract
The authors report a case of partial trisomy 1 q due to a maternal balanced translocation : t(1 ; 4) (q 32 : p 16). The evocative malformations of trisomy 1 q and monosomy 4 p are discussed and compared to seven others from the literature. Then the interest of the chromosomical prenatal diagnosis and the significance of familial genetic studies are showed.
摘要
作者报告了一例因母亲平衡易位
t(1;4)(q32:p16)导致的1q部分三体病例。文中讨论了1q三体和4p单体的引发畸形，并与文献中的其他7例进行了比较。随后展示了染色体产前诊断的意义以及家族遗传研究的重要性。
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