A Paternally Inherited Duplication in the Prader-Willi/Angelman Syndrome Critical Region: A Case and Family Study

• 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
• DOI: 10.1007/s10803-004-1039-1
• EISSN: 1573-3432
• ISSN: 0162-3257

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.