Eur Child Adolesc Psychiatry. 2004 Dec;13(6):389-93.

Autistic spectrum disorder associated with partial duplication of chromosome 15; three case reports.

Source

Michael Rutter Centre for Children and Young People, The Maudsley Hospital, London SE5 8AZ, UK. mima.simic@slam.nhs.uk

Abstract

Duplication of part or the entirety of chromosome 15 that involves the Prader-Willi/Angelman syndrome critical region (PWACR) is a genetic disorder which is associated with variable degrees of intellectual impairment, motor co-ordination problems and social and communication disorders. Published case reports indicate that phenotypic expression is dependent on parental origin of the duplication and implicate maternally derived duplications in the pathogenesis of autistic features. This article describes three individuals, two males and one female, aged between 5 and 8 years, all with partial duplication of chromosome 15. Autism (or autistic spectrum disorder) was present in all three instances with varying degrees of cognitive impairment. The aim of this paper is to describe the phenotypic characteristics of this genetic sequence and the possible associations between social and behavioural patterns on the one hand, and degree and nature of genetic impairment on the other.

PMID:: 15619052; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

Case Reports

MeSH Terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Supplemental Content

Save items

Related citations in PubMed

Review The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. [Am J Med Genet. 2001]
Review The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.
Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Jacobs P. Am J Med Genet. 2001 Dec 8; 105(8):675-85.
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. [J Med Genet. 2009]
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, et al. J Med Genet. 2009 Apr; 46(4):242-8. Epub 2008 Sep 19.
Characterisation of interstitial duplications and triplications of chromosome 15q11-q13. [Hum Genet. 2002]
Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.
Roberts SE, Dennis NR, Browne CE, Willatt L, Woods G, Cross I, Jacobs PA, Thomas S. Hum Genet. 2002 Mar; 110(3):227-34. Epub 2002 Feb 2.
Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders. [Am J Med Genet A. 2003]
Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders.
Keller K, Williams C, Wharton P, Paulk M, Bent-Williams A, Gray B, Ward A, Stalker H, Wallace M, Carter R, et al. Am J Med Genet A. 2003 Mar 1; 117A(2):105-11.
Review The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). [Orphanet J Rare Dis. 2008]
Review The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).
Battaglia A. Orphanet J Rare Dis. 2008 Nov 19; 3:30. Epub 2008 Nov 19.

See reviews... See all...

Cited by 2 PubMed Central articles

Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features. [Genet Res Int. 2011]
Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.
Hu J, Madan-Khetarpal S, Serrano Russi AH, Kochmar S, Deward SJ, Sathanoori M, Surti U. Genet Res Int. 2011; 2011:185271. Epub 2011 Jul 17.
Medical conditions in autism spectrum disorders. [J Neurodev Disord. 2009]
Medical conditions in autism spectrum disorders.
Bolton PF. J Neurodev Disord. 2009 Jun; 1(2):102-13. Epub 2009 Jul 7.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Autistic spectrum disorder associated with partial duplication of chromosome 15;...
Autistic spectrum disorder associated with partial duplication of chromosome 15; three case reports.
Eur Child Adolesc Psychiatry. 2004 Dec ;13(6):389-93.

PubMed
Electroencephalographic changes during piano playing and related mental tasks.
Electroencephalographic changes during piano playing and related mental tasks.
Acta Med Okayama. 1992 Feb ;46(1):23-9.

PubMed
Role of Sam68 as an adaptor protein in signal transduction.
Role of Sam68 as an adaptor protein in signal transduction.
Cell Mol Life Sci. 2005 Jan ;62(1):36-43.

PubMed
Suicide related to human immunodeficiency virus infection in Stockholm.
Suicide related to human immunodeficiency virus infection in Stockholm.
Acta Psychiatr Scand. 1992 Mar ;85(3):234-9.

PubMed
The evolution of signaling complexity suggests a mechanism for reducing the geno...
The evolution of signaling complexity suggests a mechanism for reducing the genomic search space in human association studies.
Mol Psychiatry. 2005 Jan ;10(1):14-26.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: