Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1999 Mar 26

PMID 10090897

Citations 38

Authors

K Devriendt

G Matthijs

R Van Dael

M Gewillig

B Eyskens

H Hjalgrim

B Dolmer

J McGaughran

K Brondum-Nielsen

P Marynen

J P Fryns

J R Vermeesch

Affiliations

Soon will be listed here.

Abstract

Deletions in the distal region of chromosome 8p (del8p) are associated with congenital heart malformations. Other major manifestations include microcephaly, intrauterine growth retardation, mental retardation, and a characteristic hyperactive, impulsive behavior. We studied genotype-phenotype correlations in nine unrelated patients with a de novo del8p, by using the combination of classic cytogenetics, FISH, and the analysis of polymorphic DNA markers. With the exception of one large terminal deletion, all deletions were interstitial. In five patients, a commonly deleted region of approximately 6 Mb was present, with breakpoints clustering in the same regions. One patient without a heart defect or microcephaly but with mild mental retardation and characteristic behavior had a smaller deletion within this commonly deleted region. Two patients without a heart defect had a more proximal interstitial deletion that did not overlap with the commonly deleted region. Taken together, these data allowed us to define the critical deletion regions for the major features of a del8p.

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