一名患有并指/并趾畸形儿童的7号染色体（q11.2q22.1）间质缺失。
Interstitial deletion of a chromosome 7 (q11.2q22.1) in a child with splithand/splitfoot malformation.
作者信息
Pfeiffer R A
出版信息
Ann Genet. 1984;27(1):45-8.
PMID:6609672
Abstract
Report on a 2-year-old, severely retarded girl with partial monosomy of 7q who exhibited not only features possibly due to the chromosomal aberration such as intrauterine dystrophy, microcephaly, odd facies, cleft palate, CHD, but also typical splithand/splitfoot malformation.
摘要
关于一名2岁重度智力发育迟缓女孩的报告，该女孩患有7号染色体长臂部分单体综合征，不仅表现出可能由染色体畸变引起的特征，如宫内发育不良、小头畸形、面容奇特、腭裂、先天性心脏病，还患有典型的裂手/裂足畸形。
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