Autism Research Today is a free monthly online journal that collates and summarizes the latest research about Autism, including details on symptoms, diagnosis, treatment, causes, effects.

Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations.

Bonati MT, Finelli P, Giardino D, Gottardi G, Roberts W, Larizza L

Clinic of Medical Genetics, Istituto Auxologico Italiano, Via Viotti 3/5, 20133 Milan, Italy.

We report on the case of a male child with autistic disorder, postnatal overgrowth, and a minor brain malformation. Karyotyping and fluorescent in situ hybridization (FISH) analysis showed the presence of an extra copy of the distal portion of chromosome 15q (15q25.2-qter) transposed to chromosome 15p leading to 15q25.2-qter pure trisomy. This karyotype-phenotype study further supports the evidence for a specific phenotype related to trisomy 15q25 or 26-qter and suggests that distal chromosome 15q may be implicated in specific behavioral phenotypes.

Published 22 February 2005 in Am J Med Genet A, 133(2): 184-8.
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