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

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

Research output: Contribution to journalArticle

17 Citations (Scopus)

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

Fingerprint

Chromosomes, Human, Pair 7
Autistic Disorder
DNA Probes
Fluorescence In Situ Hybridization
Chromosomes
Trisomy 7p Chromosome 7

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)

Cite this

De novo partial duplication of chromosome 7p in a male with autistic disorder. / Wolpert, C. M.; Donnelly, S. L.; Cuccaro, Michael; Hedges, D. J.; Poole, C. P.; Wright, H. H.; Gilbert, John; Pericak-Vance, Margaret A.

In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 105, No. 3, 08.04.2001, p. 222-225.

Research output: Contribution to journalArticle

Wolpert, C. M. ; Donnelly, S. L. ; Cuccaro, Michael ; Hedges, D. J. ; Poole, C. P. ; Wright, H. H. ; Gilbert, John ; Pericak-Vance, Margaret A. / De novo partial duplication of chromosome 7p in a male with autistic disorder. In: American Journal of Medical Genetics - Neuropsychiatric Genetics. 2001 ; Vol. 105, No. 3. pp. 222-225.
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AU - Wright, H. H.

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