Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH

Autism is a rare neurodevelopmental disorder with a strong genetic componen t, Cooccurrence of autism and chromosomal abnormalities is useful to locali ze candidate regions that may include gene(s) implicated in autism determin ism, Several candidate chromosomal regions are known, but association of ch romosome 22 abnormalities with autism is unusual. We report a child with au tistic syndrome and a de novo 22q13.3 cryptic deletion detected by FISH. Pr eviously described cases with 22q13.3 deletions shared characteristic devel opmental and speech delay, but autism was not specifically reported, This c ase emphasizes a new candidate region that may bear a gene involved in auti sm etiopathogenesis. (C) 2000 Wiley-Liss, Inc.