患有3号染色体短臂缺失（p25-pter）的婴儿：核型与表型的相关性及既往报道病例综述
Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases.
作者信息
Nienhaus H, Mau U, Zang K D
机构信息
Institute of Human Genetics, Saar University, Homburg, Federal Republic of Germany.
出版信息
Am J Med Genet. 1992 Nov 15;44(5):573-5. doi: 10.1002/ajmg.1320440508.
PMID:1481811
Abstract
We describe a boy with monosomy for the distal part of the short arm of chromosome 3. He had a congenital heart defect, tetramelic hexadactyly, and typical craniofacial anomalies. Comparison with previously reported cases confirms that the phenotype consists of an identifiable pattern of malformation.
摘要
我们描述了一名患有3号染色体短臂远端单体性的男孩。他患有先天性心脏缺陷、四肢六指畸形以及典型的颅面异常。与先前报道的病例进行比较证实，该表型由一种可识别的畸形模式组成。
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