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

Am J Med Genet A. 2005 Mar 1;133A(2):184-8. doi: 10.1002/ajmg.a.30503.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Autistic Disorder / pathology*
  • Brain / abnormalities
  • Child, Preschool
  • Chromosome Banding
  • Chromosomes, Human, Pair 15 / genetics*
  • Genotype
  • Growth Disorders / pathology
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Phenotype
  • Trisomy*