[家族性3/5易位导致的3号染色体短臂部分三体综合征在不同年龄阶段的表型体征]
[Phenotype signs at different ages in partial trisomy 3p by familial translocation 3/5].
作者信息
Schwanitz G, Zerres K
出版信息
Ann Genet. 1984;27(3):167-72.
PMID:6334481
Abstract
A family is described with a translocation 3/5 in three generations. Four patients showed the typical symptoms of partial trisomy 3p; for 2 of them a chromosome analysis was possible. Different main symptoms could be demonstrated for the different age-groups. The difficulties in analysing familial translocations and the problems in genetic counseling are discussed.
摘要
本文描述了一个三代人中存在3/5易位的家族。四名患者表现出典型的3p部分三体症状；其中两名患者进行了染色体分析。不同年龄组可表现出不同的主要症状。文中讨论了家族性易位分析的困难以及遗传咨询中的问题。
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