A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q

Matteo Della Monica, Fortunato Lonardo, Francesca Faravelli, Mauro Pierluigi, Daniela Varela Luquetti, Manuela De Gregori, Orsetta Zuffardi, Gioacchino Scarano

Research output: Contribution to journalArticle

Abstract

Chromosomal abnormalities may cause autism by disrupting a gene or by providing a permissive genetic environment for mutations elsewhere in the genome to become expressed as autism. We report here on a patient with an apparently balanced de novo translocation of chromosomes 1q and 5q. He presented with minor dysmorphic features and renal malformations, mental retardation, and autism. Further characterization of the chromosomal rearrangement by FISH revealed a deletion in chromosome 1 from q23.3 to q24.2 corresponding to a region of rising interest in the research of autism susceptibility genes. The array-CGH technique gave better resolution of the breakpoints and the size of the deletion was calculated to be 4.97 Mb.

Original languageEnglish
Pages (from-to)2733-2737
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number22
DOIs
Publication statusPublished - Nov 15 2007

Keywords

  • Array-CGH
  • Autism
  • Chromosome 1
  • Fluorescent in situ hybridization
  • Interstitial 1q deletion
  • Unbalanced translocation

ASJC Scopus subject areas

  • Genetics(clinical)

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