一名先证者存在3号染色体长臂与22号染色体短臂的易位，并伴有3号染色体部分三体的家族性遗传。
Familial transmission of a 3q;22p translocation, with partial trisomy of chromosome 3 in the propositus.
作者信息
Sod R, Giorgiutti E, Matayoshi T, de Kohan G, Munoz E
出版信息
J Genet Hum. 1978 Jun;26(2):173-6.
PMID:670944
Abstract
A family, carrying a balanced 3q;22p translocation, was detected through a propositus who showed multiple congenital malformations. As there are no previous references of similar cases where identification techniques were performed, the authors present this material for consideration in the delineation of clinical syndromes associated with specific chromosomal anomalies.
摘要
通过一名患有多种先天性畸形的先证者，检测到一个携带平衡的3号染色体长臂；22号染色体短臂易位的家系。由于之前没有对采用鉴定技术的类似病例的参考文献，作者提供此资料，以便在描述与特定染色体异常相关的临床综合征时供参考。
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