Article
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.
Autism research : official journal of the International Society for Autism Research - 1 Aug 2013
Urraca Nora, Cleary Julie, Brewer Victoria, Pivnick Eniko K, McVicar Kathryn, Thibert Ronald L, Schanen N Carolyn, Esmer Carmen, Lamport Dustin, Reiter Lawrence T
Abstract excerpt
Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of...
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