一个患有5号染色体长臂重复和胎儿丢失的家族中2号、5号和13号染色体的平衡重排
Balanced rearrangement of chromosomes 2, 5, and 13 in a family with duplication 5q and fetal loss.
作者信息
Evans M I, White B J, Kent S G, Levine M A, Levin S W, Larsen J W
出版信息
Am J Med Genet. 1984 Dec;19(4):783-90. doi: 10.1002/ajmg.1320190419.
PMID:6517101
Abstract
We have studied a family in which a mother and daughter (the proposita) had the karyotype 46,XX,ins(2;5),t(5;13). The mother had four spontaneous abortions, a mentally retarded son with duplication (5q), and a daughter who died at 3 months. The proposita had a phenotypically abnormal abortus. Rearrangements involving several chromosomes are very rare. Observations on this family are consistent with the predicted high likelihood of reproductive loss.
摘要
我们研究了一个家族，其中母亲和女儿（先证者）的核型为46,XX,ins(2;5),t(5;13)。母亲有4次自然流产，一个患有5号染色体重复的智力发育迟缓儿子，还有一个3个月时夭折的女儿。先证者有一个表型异常的流产胎儿。涉及多条染色体的重排非常罕见。对这个家族的观察结果与预测的高生殖损失可能性相符。
Zotero 插件