Congenital heart defects in siblings with partial aneuploidy of chromosome 2p

Carolyn A. Morris, Thomas M. Sutton, Timothy M. Olson

Research output: Contribution to journalArticle

1 Scopus citations

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 languageEnglish (US)
Pages (from-to)33-35
Number of pages3
JournalCardiovascular Pathology
Volume15
Issue number1
DOIs
StatePublished - Jan 1 2006

Keywords

  • Cardiac development
  • Congenital heart disease
  • Cytogenetics

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cardiology and Cardiovascular Medicine

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