Abstract
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.
Original language | English (US) |
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Pages (from-to) | 33-35 |
Number of pages | 3 |
Journal | Cardiovascular Pathology |
Volume | 15 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2006 |
Keywords
- Cardiac development
- Congenital heart disease
- Cytogenetics
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Cardiology and Cardiovascular Medicine