2q部分三体与家族性易位t(2;18)(q31;p11)
Partial trisomy 2q and familial translocation t(2;18)(q31;p11).
作者信息
Wisniewski L, Chan R, Higgins J V
出版信息
Hum Genet. 1978 Dec 18;45(2):225-8. doi: 10.1007/BF00286968.
PMID:738724
Abstract
This report describes a malformed infant with distal 2q trisomy/distal 18p monosomy due to adjacent segregation of a familial t(2;18). The rearrangement was present in four generations, and linkage studies were performed.
摘要
本报告描述了一名因家族性t(2;18)的邻接分离而患有2q远端三体/18p远端单体的畸形婴儿。这种重排在四代人中都存在，并进行了连锁研究。
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