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Keywords:

  • autism;
  • complex neurodevelopmental disorder;
  • duplication;
  • FISH mapping;
  • non homologous end joining;
  • pure trisomy 15q25.2-qter

Abstract

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. © 2005 Wiley-Liss, Inc.