Article
Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population.
Circulation. Cardiovascular genetics - 1 Jun 2012
Li Huiqing, Cherry Sheila, Klinedinst Donna, DeLeon Valerie, Redig Jennifer, Reshey Benjamin, Chin Michael T, Sherman Stephanie L, Maslen Cheryl L, Reeves Roger H
Abstract excerpt
BACKGROUND: About half of people with Down syndrome (DS) exhibit some form of congenital heart disease (CHD); however, trisomy for human chromosome 21 (Hsa21) alone is insufficient to cause CHD, as half of all people with DS have a normal heart, suggesting that genetic modifiers interact with dosage-sensitive gene(s) on Hsa21 to result in CHD. We hypothesize that a threshold exists in both DS and euploid...
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