Journal ArticleDOI
Prevalence Estimation of Williams Syndrome
TLDR
It is concluded that Williams syndrome is not an uncommon cause of mental retardation, with a prevalence of approximately 6% of patients with genetic etiology.Abstract:
There are limited population-based data on the occurrence of Williams syndrome. We estimated its prevalence combining data from two investigations. One was an epidemiologic study originally designed to assess the prevalence and etiology of mental retardation among 30,037 Norwegian children born between 1980 and 1985 and living in Akershus County on January 1, 1993. The other investigation was a national survey of Williams syndrome. In the first study, 213 children were referred for evaluation, whereas the second study comprised 57 cases with Williams syndrome born between 1970 and 1992, who were referred for evaluation from all Norwegian counties. The epidemiologic study revealed three children with Williams syndrome, whereas one additional case complying with our demographic criteria was identified in the national survey, thus giving a prevalence of 1 in 7500. In all cases, a typical chromosome 7q11.23 deletion was detected. We also conclude that Williams syndrome is not an uncommon cause of mental retardation, with a prevalence of approximately 6% of patients with genetic etiology.read more
Citations
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Journal ArticleDOI
Williams–Beuren Syndrome
TL;DR: This review covers current understanding of the biology of Williams–Beuren syndrome, a disorder of microdeletion or contiguous gene deletion, and its causes.
Journal ArticleDOI
Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour.
TL;DR: Recent advances in uncovering the functional and structural neural substrates of Williams syndrome that provide an emerging understanding of how these are related to dissociable genetic contributions characterized both in special participant populations and animal models are reviewed.
Journal ArticleDOI
Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype.
TL;DR: The need for methodologically sound studies that utilize multiple comparison groups, developmental trajectories, and longitudinal analyses to examine the WS phenotype is highlighted, as well as those that link brain structure and function to the cognitive and behavioral phenotype of WS individuals.
Journal ArticleDOI
Mutational mechanisms of williams-beuren syndrome deletions
TL;DR: This study determined the exact deletion size and LCR copy number in 74 patients with WBS, as well as precisely defined deletion breakpoints in 30 of them, using LCR-specific nucleotide differences, and proposed models for the specific pairing and precise aberrant recombination leading to each of the different germline rearrangements that occur in this region.
Journal ArticleDOI
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
Martin J. Somerville,Carolyn B. Mervis,Edwin J. Young,Eul-Ju Seo,Miguel Del Campo,Stephen Bamforth,Ella Peregrine,Wayne Loo,Margaret Lilley,Luis A. Pérez-Jurado,Colleen A. Morris,Stephen W. Scherer,Lucy R. Osborne +12 more
TL;DR: The results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities.
References
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Journal ArticleDOI
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
Amanda K. Ewart,Colleen A. Morris,Donald L. Atkinson,Jin W,Sternes K,Spallone P,A.D. Stock,Mark Leppert,M T Keating +8 more
TL;DR: Hemizygosity at the elastin locus is identified using genetic analyses in four familial and five sporadic cases of Williams syndrome, indicating that deletions involving oneElastin allele cause WS and implicate elast in hemizygosa in the pathogenesis of the disease.
Journal ArticleDOI
Supravalvular aortic stenosis.
TL;DR: The presence of supravalvular aortic stenosis in mentally retarded patients with the unusual facial features here detailed may constitute a syndrome that has not previously been described.
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Natural history of Williams syndrome: Physical characteristics
TL;DR: A growth pattern characterized by delay in the first 4 years of life, catch-up growth in childhood, and low ultimate adult height was found, indicating Williams syndrome is a progressive disorder with multisystem involvement.
Journal ArticleDOI
The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance.
TL;DR: It is suggested that defective formation of the aortic septum is responsible for the coexistence of peripheral stenosis in both great vessels and represents a new syndrome: supravalvular aorta stenosis, peripheral pulmonary stenotic, mental retardation, a certain facial appearance and complex dental malformations.
Journal ArticleDOI
Williams syndrome: from genotype through to the cognitive phenotype.
TL;DR: Cognitive analysis of patients with small deletions in 7q11.23 which include elastin and LIM Kinase 1 have revealed varying results and it is premature to draw genotype-phenotype correlations.