Title: Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1
Authors: Devriendt, Koenraad ×
Matthijs, Gert
Van Dael, R
Gewillig, Marc
Eyskens, Benedicte
Hjalgrim, H
Dolmer, B
McGaughran, J
Bröndum-Nielsen, K
Marynen, Peter
Fryns, Jean-Pierre
Vermeesch, Joris #
Issue Date: Apr-1999
Series Title: American Journal of Human Genetics vol:64 issue:4 pages:1119-26
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.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Molecular Genetics Section (-)
Pediatric Cardiology Section (-)
Cardiovascular Developmental Biology
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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