Cited by 246Genomic variations and chromosomal abnormalitiesGenetic Syndromes and ImprintingGenetics and Neurodevelopmental Disorders

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The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

Bolton, Patrick Farrar, Dennis, N.R., Browne, C.E., Thomas, N.S., Veltman, M.W.M., Thompson, R.J., Jacobs, P.·2001·American Journal of Medical Genetics

DOI 10.1002/ajmg.1551

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Abstract

This study investigated the phenotypic manifestations of interstitial duplications of chromosome 15 that involve the Prader‐Willi/Angelman syndrome critical region (PWACR). Twenty‐one affected individuals from six families were evaluated in detail, using standardized and semi‐standardized measures of intelligence, psychopathology, and physical anomalies. Special attention was placed on determining the prevalence of autism spectrum disorders as well as the relationship between the parental origin of the duplication and the phenotypic effects. Assessments of the affected individuals were compared with evaluations of the unaffected relatives from the same families. Results indicated that duplications in the region were associated with variable degrees of intellectual impairments and motor coordination problems. Four of the subjects received a diagnosis of pervasive developmental disorder. Three of these cases were probands and only one met criteria for classic autism. There was very little evidence of the duplication cosegregating with autism spectrum disorder diagnosis. Paternally inherited duplications were significantly less likely to give rise to phenotypic effects. The findings indicate that duplications in the PWACR give rise to developmental delay but not necessarily autism spectrum disorders. They also suggest that phenotypic expression is dependent on the parental origin of the duplication and implicate maternally active genes in the pathogenesis of the developmental impairments. Further research will be required to clarify the range and basis of the phenotypic manifestations. © 2001 Wiley‐Liss, Inc.

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Authors: Bolton, P. F., Dennis, N. R., Browne, C. E., Thomas, N. S., Veltman, M. W. M., Thompson, R. J., & Jacobs, P.
Affiliations: University of Cambridge (GB)
Princess Anne Hospital (GB)
Salisbury District Hospital (GB)
Corresponding author: Bolton, Patrick Farrar
ORCID: Bolton, Patrick Farrar
Thomas, N.S.
Venue: American Journal of Medical Genetics
Publisher: Wiley
Published: 2001-09-06
Volume: 105
Issue: 8
Pages: 675-685
ISSN: 0148-7299 (ISSN-L)
1096-8628
DOI: 10.1002/ajmg.1551
OpenAlex: W2157093495
Cited by: 246
References: 24
Citations by year: 2026: 4 · 2025: 3 · 2024: 3 · 2023: 1 · 2022: 3 · 2021: 3 · 2020: 3 · 2019: 4 · 2018: 4 · 2017: 16 · 2016: 4 · 2015: 10 · 2014: 12 · 2013: 8 · 2012: 9
FWCI: 5.82
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: American Journal of Medical Genetics (publishedVersion)
PubMed (publishedVersion)
ePrints Soton (University of Southampton) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: autism spectrum disorder, pervasive developmental disorders, intellectual disability, motor coordination deficits, phenotypic expression, developmental delay, co-segregation
MeSH terms: Adult, Autistic Disorder, Behavior, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 15, Cognition, Cognition Disorders, Family Health, Female, Heterozygote, Humans, Intelligence Tests, Male, Pedigree, Phenotype, Psychomotor Performance, Twins, Monozygotic, Gene Duplication

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The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

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