Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p

被引：0
作者：
Leichtman, LG
Zackowski, JL
Storto, PD
Newlin, A
机构：
[1] MICHIGAN STATE UNIV,DEPT PEDIAT & HUMAN DEV,E LANSING,MI 48824
[2] UNIV CHICAGO,CTR EYE,DEPT OPHTHALMOL,CHICAGO,IL 60637
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1996年 / 63卷 / 03期
关键词：
chromosome; 9; tetrasomy; 9p; trisomy; multiple congenital anomalies;
D O I：
10.1002/(SICI)1096-8628(19960614)63:3<434::AID-AJMG4>3.0.CO;2-R
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases, Most of these children present with microbrachycephaly, wide forehead, hypertelorism, low-set, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnormalities, multiple limb defects, hypotonia, and early death. (C) 1996 Wiley-Liss, Inc.
引用
收藏
页码：434 / 437
页数：4
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