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Chromosomal abnormalities in a clinic sample of individuals with autistic disorder

Wassink, Thomas H.a; Piven, Josephb; Patil, Shivanand R.c

Research Papers

We examined data from the largest reported sample of autistic individuals who have been karyotyped with the aim of providing additional information in the search for autism disease genes. Individuals seen in the University of Iowa's Child and Adolescent Psychiatry Clinic since 1980 who had been diagnosed with autism were cross-referenced with the University of Iowa's Cytogenetics Laboratory database. We determined the number of individuals referred for cytogenetic testing and, of these, the number found to have gross cytological abnormalities. Medical records were reviewed for all cases with such abnormalities. Between 1980 and 1998, 898 subjects seen in the clinic were diagnosed with autism. Of these, 278 (30.1%) were referred for cytological studies; 25 (9.0%) of these were found to have chromosomal abnormalities. The most common chromosomal abnormalities were Fragile X, other sex chromosome anomalies, and chromosome 15 abnormalities. These data support the contribution of chromosomal abnormalities to a small but significant number of cases of autism, and highlight the involvement of chromosome 15 and the sex chromosomes.

aDepartment of Psychiatry, University of Iowa College of Medicine, Iowa City, Iowa, USA bNorth Carolina Mental Retardation Research Center, Department of Psychiatry, University of North Carolina, Chapel Hill, North Carolina, USA cDepartment of Pediatrics, University of Iowa College of Medicine, Iowa City, Iowa, USA

Correspondence to Thomas H. Wassink M.D., University of Iowa Hospitals and Clinics, Psychiatry Research, Medical Education Building, Iowa City, IA 52242, USA. E-mail:

Received 27 December 2000

Accepted 19 April 2001

© 2001 Lippincott Williams & Wilkins, Inc.