Complex autism spectrum disorder in a patient with a 17q12 microduplication

• Published in: American journal of medical genetics. Part A Vol. 158A; no. 5; pp. 1170 - 1177
• Main Authors: Brandt, Tracy, Desai, Khyati, Grodberg, David, Mehta, Lakshmi, Cohen, Ninette, Tryfon, Ana, Kolevzon, Alexander, Soorya, Latha, Buxbaum, Joseph D., Edelmann, Lisa
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-05-2012; Wiley-Liss; Wiley Subscription Services, Inc
• Subjects: 17q12 microduplication; array CGH; autism; Biological and medical sciences; Child clinical studies; Child Development Disorders, Pervasive - genetics; Child, Preschool; Chromosome Deletion; Chromosome Duplication; Chromosomes, Human, Pair 17; Comparative Genomic Hybridization; Developmental disorders; Humans; Infantile autism; Intellectual Disability - genetics; Male; Medical genetics; Medical sciences; Parents; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; recurrent rearrangement; Human; Nervous system diseases; Relapse; array CGH; 17q12 microduplication; Patient; Developmental disorder; Recurrent; Complexes; recurrent rearrangement; Autism; Pervasive developmental disorder; Neurological disorder
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.35267

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.