Article
Increased female autosomal burden of rare copy number variants in human populations and in autism families.
Molecular psychiatry - 1 Feb 2015
Desachy G, Croen L A, Torres A R, Kharrazi M, Delorenze G N, Windham G C, Yoshida C K, Weiss L A
Abstract excerpt
Autosomal genetic variation is presumed equivalent in males and females and makes a major contribution to disease risk. We set out to identify whether maternal copy number variants (CNVs) contribute to autism spectrum disorders (ASDs). Surprisingly, we observed a higher autosomal burden of large, rare CNVs in females in the population, reflected in, but not unique to, ASD families. Meta-analysis across control...
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