Genetic Modifiers Predisposing to Congenital Heart Disease in the Sensitized Down Syndrome Population | Zendy

Huiqing Li | Zendy; Sheila M. Cherry | Zendy; Donna Klinedinst | Zendy; Valerie B. DeLeon | Zendy; Jennifer K. Redig | Zendy; Benjamin Reshey | Zendy; Michael T. Chin | Zendy; Stephanie L. Sherman | Zendy; Cheryl L. Maslen | Zendy; Roger H. Reeves | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Genetic Modifiers Predisposing to Congenital Heart Disease in the Sensitized Down Syndrome Population

Author(s) -

Huiqing Li,

Sheila M. Cherry,

Donna Klinedinst,

Valerie B. DeLeon,

Jennifer K. Redig,

Benjamin Reshey,

Michael T. Chin,

Stephanie L. Sherman,

Cheryl L. Maslen,

Roger H. Reeves

Publication year - 2012

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.111.960872

Subject(s) - down syndrome , trisomy , allele , heart disease , genetics , biology , population , chromosome 21 , atrioventricular septal defect , mutant , gene , loss function , chromosome , medicine , phenotype , environmental health

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 populations for the number of genetic perturbations that can be tolerated before CHD results.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research