Patient with Autistic Disorder and 46,XX,DUP(7) (p11.1p11.2)

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

Research output: Contribution to journalArticlepeer-review


We identified a 25-year old male with Autistic Disorder (AD) and a history of an unknown chromosome anomaly. 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 7p11.2p14.1. Fluorescent in situ hybridization (FISH), using a whole chromosome 7 DNA probe (Cytocell, Inc.) confirmed that the extra chromosome 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 slightly more than 30 cases having been reported. This case is interesting in light of the finding reported by Rodier et al, 1997, that polymorphisms of the HOXA1 gene located on 7p15-p14.2 are over-represented in patients with AD.

Original languageEnglish (US)
Pages (from-to)544-545
Number of pages2
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number4
StatePublished - Aug 7 2000

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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