一名具有典型9p三体综合征表型的儿童出现9号染色体短臂（从p13到p22）的部分重复。
Partial duplication of the short arm of chromosome 9 (p13 leads to p22) in a child with typical 9p trisomy phenotype.
作者信息
Fryns J P, Casaer P, Van den Berghe H
出版信息
Hum Genet. 1979 Jan 25;46(2):231-5. doi: 10.1007/BF00291926.
PMID:422206
Abstract
A 3-year-old girl with duplication 9 (p22 leads to p13) is reported. The presence of a classical 9p trisomy phenotype in this patient suggests that this region (or part of it) is responsible for the major, typical clinical stigmata of this partial autosomal trisomy syndrome.
摘要
报道了一名患有9号染色体重复（p22至p13）的3岁女孩。该患者存在典型的9p三体综合征表型，提示该区域（或其部分）是导致这种部分常染色体三体综合征主要典型临床特征的原因。
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