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

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

Research output: Contribution to journalArticle

48 Citations (Scopus)

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

Fingerprint

Congenital Heart Defects
Aneuploidy
Chromosome 8p deletion syndrome (partial)

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Nonrandom association of atrioventricular canal and del (8p) syndrome. / Marino, B.; Reale, A.; Giannotti, A.; Digilio, M. C.; Dallapiccola, B.

In: American Journal of Medical Genetics, Vol. 42, No. 4, 1992, p. 424-427.

Research output: Contribution to journalArticle

@article{04e613b65eb34c338db09e69cc98041d,
title = "Nonrandom association of atrioventricular canal and del (8p) syndrome",
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.",
keywords = "atrioventricular canal, congenital heart disease, partial deletion 8p",
author = "B. Marino and A. Reale and A. Giannotti and Digilio, {M. C.} and B. Dallapiccola",
year = "1992",
language = "English",
volume = "42",
pages = "424--427",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Nonrandom association of atrioventricular canal and del (8p) syndrome

AU - Marino, B.

AU - Reale, A.

AU - Giannotti, A.

AU - Digilio, M. C.

AU - Dallapiccola, B.

PY - 1992

Y1 - 1992

N2 - 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.

AB - 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.

KW - atrioventricular canal

KW - congenital heart disease

KW - partial deletion 8p

UR - http://www.scopus.com/inward/record.url?scp=0026583504&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026583504&partnerID=8YFLogxK

M3 - Article

C2 - 1609823

AN - SCOPUS:0026583504

VL - 42

SP - 424

EP - 427

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 4

ER -