Deletion of the long arm of chromosome 6: Two new patients and literature review

被引：0
作者：
Evers, LJM
SchranderStumpel, CTRM
Engelen, JJM
Hoorntje, TM
PullesHeintzberger, CFM
Schrander, JJP
Albrechts, JCM
Peters, J
Fryns, JP
机构：
[1] UNIV LIMBURG,DEPT MOL CELL BIOL & GENET,NL-6200 MD MAASTRICHT,NETHERLANDS
[2] UNIV LIMBURG,DEPT PEDIAT,NL-6200 MD MAASTRICHT,NETHERLANDS
[3] MAASLAND HOSP,DEPT PEDIAT,GELEEN,NETHERLANDS
[4] UNIV HOSP,CTR HUMAN GENET,LOUVAIN,BELGIUM
来源：
CLINICAL GENETICS | 1996年 / 50卷 / 03期
关键词：
cardiac defect; chromosome; 6q; interstitial deletion; terminal deletion;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46,XX,del(6)(q16.2q23.1)], and a boy with a terminal deletion [46,XY,del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.
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收藏
页码：138 / 144
页数：7
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