Congenital heart defects in siblings with partial aneuploidy of chromosome 2p.
Cytogenetic anomalies are found in 13% of children with congenital heart disease, providing positional information that may aid in identifying genes governing cardiac development. We report two children born to a clinically normal female with a balanced chromosomal rearrangement, resulting from insertion of 2p24.2-p25.1 into chromosome 1. Each of her offspring had complex congenital heart disease, including left ventricular hypoplasia, and inherited a different copy number of the 2p segment. These findings suggest that proper dosage of a gene or genes in this region is important in normal cardiac development.
Morris
Carolyn A
CA
Mayo Medical School, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.
Sutton
Thomas M
TM
Olson
Timothy M
TM
D000782:Aneuploidy; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D035781:Siblings