两名兄弟姐妹的7号染色体长臂部分三体性。
Partial trisomy 7q in two siblings.
作者信息
Klasen M, Schmid M, Hansmann I, Grimm T
出版信息
Ann Genet. 1983;26(2):100-2.
PMID:6604481
Abstract
Trisomy for 7q32 leads to 7qter and monosomy for 9p24 leads to 9pter is observed in a sister and a brother, due to a balanced reciprocal translocation between the long arm of the chromosome 7 and the short arm of the chromosome 9 in the mother. The siblings are retarded mentally as well as in statomotoric development. This paper discusses the correlation between chromosomal states and certain deformities in patients with trisomies of different segments of 7q.
摘要
在一对姐弟中观察到，7号染色体长臂32区三体导致7号染色体末端重复，9号染色体短臂24区单体导致9号染色体末端缺失，这是由于母亲的7号染色体长臂与9号染色体短臂之间发生了平衡易位。这对姐弟在智力和运动发育方面均有迟缓。本文讨论了7号染色体不同区段三体患者的染色体状态与某些畸形之间的相关性。
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