De novo partial duplication of chromosome 7p in a male with autistic disorder

C. M. Wolpert, S. L. Donnelly, M. L. Cuccaro, D. J. Hedges, C. P. Poole, H. H. Wright, J. R. Gilbert, M. A. Pericak-Vance

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

We describe a de novo partial duplication of 7p in a 25-year-old male with autistic disorder (AD). High-resolution chromosome analysis revealed an extra segment added to the proximal short arm of chromosome 7. The G-band pattern was consistent with an inverted duplication of 7pll.2-p14.1. Fluorescent in situ hybridization (FISH), using a whole chromosome 7 DNA probe (Cytocell, Inc., UK), confirmed that the extra chromo some material is derived from chromosome 7, indicating that the patient is partially trisomic for a region of the short arm of chromosome 7. Partial duplication of the short arm of chromosome 7 is uncommon with little more than 30 cases in the literature. This is the first report of an individual with a 7p duplication who also has AD.

Original languageEnglish (US)
Pages (from-to)222-225
Number of pages4
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume105
Issue number3
DOIs
StatePublished - Apr 8 2001

Keywords

  • Autistic disorder
  • Craniofacial abnormalities
  • HOXA1 gene
  • Inverted duplication 7p
  • Partial trisomy 7p

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

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