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Cited by 453Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalitiesWilliams Syndrome Research

The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.

Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region

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Whittington, J E, Holland, A J, Webb, T, Butler, J, Clarke, D, Boer, H·2001·Journal of Medical Genetics
DOI 10.1136/jmg.38.11.792PMC PMC1734766
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Abstract

Editor—Prader-Willi syndrome (PWS) is a genetically determined disorder in which the absence of expression of one or more maternally imprinted gene(s) in the chromosomal region 15q11-13 results in a characteristic facial appearance, learning disabilities (mental retardation), and severe overeating behaviour owing to an abnormal satiety response to food intake, together with a range of other behaviours. Initially, as reported by Prader et al ,1 PWS was conceived as a syndrome of obesity, short growth, cryptorchidism, and mental retardation following hypotonia in the neonatal period. As more and more people with PWS were reported and research into the syndrome began, behavioural characteristics and other clinical features were added, culminating in the consensus diagnostic criteria.2Concurrently, the genetics of the disorder were receiving attention. First was the discovery that for many there was a visible chromosomal deletion in the proximal part of the long arm of chromosome 15 (15q11-13). Reports of an apparently similar deletion being associated with a phenotypically very different syndrome (Angelman syndrome, AS),3 and the observation that PWS was the result of a deletion on the chromosome 15 of paternal origin, and AS the chromosome 15 of maternal origin, led to the recognition that gender specific imprinting of genes at that locus accounted for two diverse syndromes being associated with apparently similar chromosomal deletions.4 Maternal chromosome 15 disomies, mutations of an imprinting centre, and chromosomal translocations accounted for non-deletion cases of PWS.5 In published reports on Prader-Willi syndrome (PWS), prevalence has been variously quoted as “about 1 in 25 000 live births”,6 “between one in 25 000 and one in 10 000 live born children”,7 “[estimates] vary 6-fold from 1 in 5000 to 10 000; 1 in 10 000; 1 in 15 000; 1 in 25 000; to 1 in 10 000 to 30 000”.8 Only two estimates …

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Metadata

Authors
Whittington, J. E., Holland, A. J., Webb, T., Butler, J., Clarke, D., & Boer, H.
Affiliations
University of Cambridge (GB)
Corresponding author
Whittington, J E
Venue
Journal of Medical Genetics
Publisher
BMJ
Published
2001-11-01
Volume
38
Issue
11
Pages
792-798
ISSN
  • 0022-2593 (ISSN-L)
  • 1468-6244
DOI
10.1136/jmg.38.11.792
PMC
PMC1734766
OpenAlex
W2013498101
Cited by
451
References
15
Citations by year
2026: 11 · 2025: 11 · 2024: 10 · 2023: 15 · 2022: 15 · 2021: 25 · 2020: 14 · 2019: 21 · 2018: 23 · 2017: 17 · 2016: 24 · 2015: 23 · 2014: 21 · 2013: 25 · 2012: 27
FWCI
4.00
Type
journal article
Language
en
Open access
Locations
  • Journal of Medical Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • HighWire Press Open Archive (submittedVersion)
  • University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords
Prader-Willi syndrome, prevalence, birth incidence, mortality rates, chromosome 15q11-13, genomic imprinting, Angelman syndrome, obesity, intellectual disability, hypotonia, cryptorchidism
MeSH terms
Adolescent, Adult, Age Factors, Child, Child, Preschool, Female, Genetic Testing, United Kingdom, Humans, Infant, Infant, Newborn, Male, Middle Aged, Phenotype, Prader-Willi Syndrome, Sex Factors, Incidence, Prevalence, Survival Rate

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