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

Research output: Contribution to journal › Article › peer-review

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
Externally published	Yes

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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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 › peer-review

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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.",

keywords = "Autistic disorder, Craniofacial abnormalities, HOXA1 gene, Inverted duplication 7p, Partial trisomy 7p",

author = "Wolpert, {C. M.} and Donnelly, {S. L.} and Cuccaro, {M. L.} and Hedges, {D. J.} and Poole, {C. P.} and Wright, {H. H.} and Gilbert, {J. R.} and Pericak-Vance, {M. A.}",

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AU - Wolpert, C. M.

AU - Donnelly, S. L.

AU - Cuccaro, M. L.

AU - Hedges, D. J.

AU - Poole, C. P.

AU - Wright, H. H.

AU - Gilbert, J. R.

AU - Pericak-Vance, M. A.

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AB - 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.

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KW - Craniofacial abnormalities

KW - HOXA1 gene

KW - Inverted duplication 7p

KW - Partial trisomy 7p

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

Abstract

Keywords

ASJC Scopus subject areas

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