Chromosomal abnormalities in a clinic sample of individuals with autistic disord (abstract)

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Psychiatr Genet 2001 Jun;11(2):57-63

Chromosomal abnormalities in a clinic sample of individuals with autistic

disorder.

Wassink TH, Piven J, Patil SR.

Department of Psychiatry, University of Iowa College of Medicine, Iowa City,

USA. thomas-wassink@...

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.

PMID: 11525418 [PubMed - in process]