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A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study

A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study
A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study
The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11–13) is of interest as a potential locus for genes conferring susceptibility to autism spectrum disorders (ASD). This report describes a female proband referred for evaluation of a possible ASD. Genetic analyses indicated that the proband, her father and one of her sisters, carried a paternally derived interstitial duplication involving 15q11–13. The proband showed evidence of ASD (PDD-NOS), borderline mental retardation, mild hypotonia and joint laxity. Her father and her sister were of normal intelligence and neither was thought to have an ASD, although speech/language difficulties and some autistic type behaviours were reported to have been present early in the development of the sister. This is one of the first reports of a child with a paternal duplication and an autism spectrum disorder. More research is required to determine whether paternally derived duplications that involve 15q11–13 are associated with developmental impairments.
chromosome 15, prader-willi/angelman syndrome critical region, paternally inherited duplication, pervasive developmental disorder
0162-3257
117-127
Veltman, Marijcke W.M.
c7058408-7866-49ce-9807-e1b3eecfb4a6
Thompson, Russell J.
4f73d649-4980-45c7-9c05-0090683ebb20
Craig, Ellen E.
f33f423e-3d96-49f7-b5d7-86e10aa2727d
Dennis, Nicholas R.
154aa617-52e2-4711-98ef-89fef8610de7
Roberts, Sian E.
276e085c-847b-4134-9083-da8fce1f8122
Moore, Vanessa
c64bbb54-75b4-4ef2-b2d8-658f33f1ce03
Brown, Josie A.
cba9ce2e-afb6-4de8-ab6e-6b8529e1ab22
Bolton, Patrick F.
2f8d64d8-1977-4020-9add-d571cb96f826
Veltman, Marijcke W.M.
c7058408-7866-49ce-9807-e1b3eecfb4a6
Thompson, Russell J.
4f73d649-4980-45c7-9c05-0090683ebb20
Craig, Ellen E.
f33f423e-3d96-49f7-b5d7-86e10aa2727d
Dennis, Nicholas R.
154aa617-52e2-4711-98ef-89fef8610de7
Roberts, Sian E.
276e085c-847b-4134-9083-da8fce1f8122
Moore, Vanessa
c64bbb54-75b4-4ef2-b2d8-658f33f1ce03
Brown, Josie A.
cba9ce2e-afb6-4de8-ab6e-6b8529e1ab22
Bolton, Patrick F.
2f8d64d8-1977-4020-9add-d571cb96f826

Veltman, Marijcke W.M., Thompson, Russell J., Craig, Ellen E., Dennis, Nicholas R., Roberts, Sian E., Moore, Vanessa, Brown, Josie A. and Bolton, Patrick F. (2005) A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study. Journal of Autism and Developmental Disorders, 35 (1), 117-127. (doi:10.1007/s10803-004-1039-1).

Record type: Article

Abstract

The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11–13) is of interest as a potential locus for genes conferring susceptibility to autism spectrum disorders (ASD). This report describes a female proband referred for evaluation of a possible ASD. Genetic analyses indicated that the proband, her father and one of her sisters, carried a paternally derived interstitial duplication involving 15q11–13. The proband showed evidence of ASD (PDD-NOS), borderline mental retardation, mild hypotonia and joint laxity. Her father and her sister were of normal intelligence and neither was thought to have an ASD, although speech/language difficulties and some autistic type behaviours were reported to have been present early in the development of the sister. This is one of the first reports of a child with a paternal duplication and an autism spectrum disorder. More research is required to determine whether paternally derived duplications that involve 15q11–13 are associated with developmental impairments.

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More information

Published date: 2005
Keywords: chromosome 15, prader-willi/angelman syndrome critical region, paternally inherited duplication, pervasive developmental disorder

Identifiers

Local EPrints ID: 25013
URI: http://eprints.soton.ac.uk/id/eprint/25013
ISSN: 0162-3257
PURE UUID: 0d5d2278-9be9-4913-bbcd-7f651a7f7829

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Date deposited: 04 Apr 2006
Last modified: 15 Mar 2024 06:59

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Contributors

Author: Marijcke W.M. Veltman
Author: Russell J. Thompson
Author: Ellen E. Craig
Author: Nicholas R. Dennis
Author: Sian E. Roberts
Author: Vanessa Moore
Author: Josie A. Brown
Author: Patrick F. Bolton

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