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Complex autism spectrum disorder in a patient with a 17q12 microduplication
Author(s) -
Brandt Tracy,
Desai Khyati,
Grodberg David,
Mehta Lakshmi,
Cohen Ninette,
Tryfon Ana,
Kolevzon Alexander,
Soorya Latha,
Buxbaum Joseph D.,
Edelmann Lisa
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35267
Subject(s) - autism , intellectual disability , comparative genomic hybridization , autism spectrum disorder , etiology , chromosome , genetics , copy number variation , phenotype , bioinformatics , disease , biology , medicine , pathology , psychiatry , genome , gene
Autism spectrum disorders (ASDs) are phenotypically complex developmental neuropsychiatric disorders affecting approximately 0.6% of the population. About 30–70% of affected children are also considered to have intellectual disability (ID). The underlying genetic causes of ASDs are diverse with a defined etiology in 16–20%. Array comparative genomic hybridization (aCGH) has proven useful in identifying sub‐microscopic chromosome aberrations in a subset of patients, some of which have been shown to be recurrent. One such aberration is the 1.4 Mb microdeletion at chromosome 17q12, which has been reported to be associated with renal disease, growth restriction, diabetes, cognitive impairment, seizures, and in some cases an ASD. Patients with the reciprocal chromosome 17q12 microduplication typically have also been identified with ID and in some cases seizures and behavioral abnormalities. Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism. To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype. © 2012 Wiley Periodicals, Inc.