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房室管与8号染色体短臂缺失（del(8p)）综合征的非随机关联。

Nonrandom association of atrioventricular canal and del (8p) syndrome.

作者信息

Marino B, Reale A, Giannotti A, Digilio M C, Dallapiccola B

机构信息

Department of Pediatric Cardiology and Genetics, Bambino Gesù Hospital, Rome, Italy.

出版信息

Am J Med Genet. 1992 Feb 15;42(4):424-7. doi: 10.1002/ajmg.1320420404.

DOI:10.1002/ajmg.1320420404
PMID:1609823
Abstract

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.

摘要

我们描述了一名患有8号染色体短臂部分缺失并伴有房室管畸形的患者。在先前报道的7例患有先天性心脏病且心脏评估完整的del(8p)儿童中，有4例发现了这种类型的先天性心脏缺陷。在这种非整倍体中，房室管畸形的患病率很高，提示这两种异常之间存在非随机关联。

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引用本文的文献

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De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay.
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Complete atrioventricular canal.完全性房室通道
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