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 pro...

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Bibliographic Details
Published in:	Journal of autism and developmental disorders Vol. 35; no. 1; pp. 117 - 127
Main Authors:	Veltman, Marijcke W. M, Thompson, Russell J, Craig, Ellen E, Dennis, Nicholas R, Roberts, Sian E, Moore, Vanessa, Brown, Josie A, Bolton, Patrick F
Format:	Journal Article
Language:	English
Published:	Heidelberg Springer 01-02-2005 Springer Nature B.V
Subjects:	Adult Angelman syndrome Angelman Syndrome - diagnosis Angelman Syndrome - genetics Autism Autism Spectrum Disorders Autistic Disorder - diagnosis Autistic Disorder - genetics Biological and medical sciences Case Studies Child Child clinical studies Child, Preschool Chromosome abnormalities Chromosome Deletion Chromosomes Chromosomes, Human, Pair 15 Developmental Delays Developmental disorders Disabilities Duplication Evidence Family (Sociological Unit) Family studies Fathers Female Females Foreign Countries Genes, Duplicate - genetics Genetic Carrier Screening Genetic Predisposition to Disease - genetics Genetic susceptibility Genetics Heredity Hospitals Humans Intellectual Disability - diagnosis Intellectual Disability - genetics Language Impairments Male Medical sciences Miscellaneous Neuropsychological Tests Pedigree Pervasive Developmental Disorders Phenotype Prader-Willi syndrome Prader-Willi Syndrome - diagnosis Prader-Willi Syndrome - genetics Psychiatry Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Siblings Slow Learners Symptoms (Individual Disorders) United Kingdom United Kingdom Endocrinopathy Human paternally inherited duplication Nervous system diseases Family study Diseases of the osteoarticular system Happy puppet syndrome Congenital disease Cerebral disorder Genetic disease Case study Pervasive developmental disorder Malformation Chromosome D15 Central nervous system disease Prader-Willi/Angelman Syndrome Critical Region Complex syndrome Chromosome 15 Child Prader Labhart Willi syndrome
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Case Study-2 ObjectType-Feature-4 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0162-3257 1573-3432
DOI:	10.1007/s10803-004-1039-1