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

Maria Teresa Bonati, Palma Finelli, Daniela Giardino, Giulietta Gottardi, Wendy Roberts, Lidia Larizza

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)184-188
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume133 A
Issue number2
DOIs
Publication statusPublished - Mar 1 2005

Keywords

  • Autism
  • Complex neurodevelopmental disorder
  • Duplication
  • FISH mapping
  • Non homologous end joining
  • Pure trisomy 15q25.2-qter

ASJC Scopus subject areas

  • Genetics(clinical)

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