NONRANDOM ASSOCIATION OF ATRIOVENTRICULAR-CANAL AND DEL (8P) SYNDROME

被引：55

作者：

MARINO, B ^{[1
]}

REALE, A ^{[1
]}

GIANNOTTI, A ^{[1
]}

DIGILIO, MC ^{[1
]}

DALLAPICCOLA, B ^{[1
]}

机构：

[1] UNIV ROME 2,DEPT PUBL HLTH & CELL BIOL,CHAIR HUMAN GENET,ROME,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 04期

关键词：

PARTIAL DELETION 8P; CONGENITAL HEART DISEASE; ATRIOVENTRICULAR CANAL;

D O I：

10.1002/ajmg.1320420404

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a patient with partial deletion of the short arm of chromosome 8 with an atrioventricular canal. This type of congenital heart defect was found in 4 of the 7 previously reported del (8p) children with a congenital heart defect in which the cardiac assessment was complete. The prevalence of an atrioventricular canal in this aneuploidy is high and suggests a nonrandom association of the 2 anomalies.

引用

页码：424 / 427

页数：4

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