Article
Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome.
The American journal of cardiology - 1 Feb 2011
Swaby Jodi-Ann M, Silversides Candice K, Bekeschus Sean C, Piran Sara, Oechslin Erwin N, Chow Eva W C, Bassett Anne S
Abstract excerpt
The 22.q11.2 deletion syndrome (22q11DS) is a common genetic condition associated with 22q11.2 microdeletions and classically has included congenital heart disease (CHD) as a part of the variable expression. Some evidence has shown that relatives of those with 22q11DS might be at an increased risk of CHD in the absence of 22q11.2 deletions. We obtained a detailed family history of CHD in the first- to...
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