Article
Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.
PloS one - 31 Aug 2010
Pani Ariel M, Hobart Holly H, Morris Colleen A, Mervis Carolyn B, Bray-Ward Patricia, Kimberley Kendra W, Rios Cecilia M, Clark Robin C, Gulbronson Maricela D, Gowans Gordon C, Gregg Ronald G
Abstract excerpt
BACKGROUND: Intellectual disability (ID) affects 2-3% of the population and may occur with or without multiple congenital anomalies (MCA) or other medical conditions. Established genetic syndromes and visible chromosome abnormalities account for a substantial percentage of ID diagnoses, although for approximately 50% the molecular etiology is unknown. Individuals with features suggestive of various syndromes but...
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