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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)424-427
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume42
Issue number4
Publication statusPublished - 1992

Keywords

  • atrioventricular canal
  • congenital heart disease
  • partial deletion 8p

ASJC Scopus subject areas

  • Genetics(clinical)

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