Tricuspid atresia and 22q11 deletion

被引：0
作者：
Marino, B
Digilio, MC
Novelli, G
Giannotti, A
Dallapiccola, B
机构：
[1] BAMBINO GESU PEDIAT HOSP,DEPT MED GENET,ROME,ITALY
[2] UNIV ROMA TOR VERGATA,DEPT PUBL HLTH & CELL BIOL,ROME,ITALY
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1997年 / 72卷 / 01期
关键词：
congenital heart disease; tricuspid atresia; 22q11; deletion; DiGeorge syndrome; velo-cardio-facial syndrome;
D O I：
10.1002/(SICI)1096-8628(19971003)72:1<40::AID-AJMG8>3.0.CO;2-Z
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Tricuspid atresia has not been reported in 22q11 microdeletions causing DiGeorge and velo-cardio-facial syndromes. We investigated the prevalence of 22q11 hemizygosity in 26 children with tricuspid atresia. Fluorescent hybridization with the Sc11.1 probe demonstrated a 22q11 microdeletion in 2 patients, one with and another without transposition of the great arteries. Both deletion patients had minor facial anomalies characteristic of DiGeorge syndrome. The present observations suggest that tricuspid atresia should be included in the list of cardiac malformations seen in del22q11 syndromes. (C) 1997 Wiley-Liss, Inc.
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页码：40 / 42
页数：3
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