一种与Greig多指（趾）-颅面异常综合征相关的家族性相互易位t(3;7) (p21.1;p13) 。
A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome.
作者信息
Tommerup N, Nielsen F
出版信息
Am J Med Genet. 1983 Nov;16(3):313-21. doi: 10.1002/ajmg.1320160304.
PMID:6316787
Abstract
A translocation t(3;7) (p21.l;p13) segregating through four generations was found to be invariably associated with the Greig cephalopolysyndactyly syndrome (GS). High resolution chromosome analyses using G and R banding did not uncover any imbalance of the affected chromosomes, nor were the late replicating patterns changed. One girl with the GS died of medulloblastoma.
摘要
发现一个通过四代遗传的易位t(3;7)(p21.1;p13)总是与Greig头多指(趾)综合征(GS)相关。使用G带和R带进行的高分辨率染色体分析未发现受影响染色体有任何不平衡，晚期复制模式也未改变。一名患有GS的女孩死于髓母细胞瘤。
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