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

doi:10.1002/ajmg.1258

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

Hussman Institute for Human Genomics

Research output: Contribution to journal › Article

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 language	English (US)
Pages (from-to)	222-225
Number of pages	4
Journal	American Journal of Medical Genetics - Neuropsychiatric Genetics
Volume	105
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.1258
State	Published - Apr 8 2001

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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

Wolpert, C. M., Donnelly, S. L., Cuccaro, M. L., Hedges, D. J., Poole, C. P., Wright, H. H., Gilbert, J. R., & Pericak-Vance, M. A. (2001). De novo partial duplication of chromosome 7p in a male with autistic disorder. American Journal of Medical Genetics - Neuropsychiatric Genetics, 105(3), 222-225. https://doi.org/10.1002/ajmg.1258

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

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

Research output: Contribution to journal › Article

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Access to Document

10.1002/ajmg.1258