INFANT WITH DEL(3) (P25-PTER) - KARYOTYPE-PHENOTYPE CORRELATION AND REVIEW OF PREVIOUSLY REPORTED CASES

被引：23

作者：

NIENHAUS, H

MAU, U

ZANG, KD

机构：

[1] Institute of Human Genetics, Saar University

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 05期

关键词：

CHROMOSOME DELETION; CHROMOSOME-3; PARTIAL MONOSOMY-3P; MULTIPLE CONGENITAL MALFORMATIONS; MENTAL RETARDATION;

D O I：

10.1002/ajmg.1320440508

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：573 / 575

页数：3

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