Literature DB >> 8256809

Williams syndrome: autosomal dominant inheritance.

C A Morris1, I T Thomas, F Greenberg.   

Abstract

Williams syndrome (WS) usually occurs sporadically. Few familial cases of Williams syndrome have been described, and those reports have often lacked photographic documentation. We describe 3 families, including a 3-year-old boy and his 34-year-old father, a 2-year-old girl and her 30-year-old mother, and a 3-year-old girl and her 31-year-old mother. None of these patients has supravalvular aortic stenosis or chromosome abnormalities. In all 3 families, the parent with Williams syndrome was diagnosed after the identification of the syndrome in the affected child.

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Year:  1993        PMID: 8256809     DOI: 10.1002/ajmg.1320470409

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  29 in total

1.  Williams syndrome: an update on clinical and molecular aspects.

Authors:  K Metcalfe
Journal:  Arch Dis Child       Date:  1999-09       Impact factor: 3.791

2.  Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.

Authors:  L R Osborne; S Soder; X M Shi; B Pober; T Costa; S W Scherer; L C Tsui
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

Review 3.  Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Authors:  Giuseppe Merla; Nicola Brunetti-Pierri; Lucia Micale; Carmela Fusco
Journal:  Hum Genet       Date:  2010-05-01       Impact factor: 4.132

4.  No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control.

Authors:  Judith Frohnauer; Almuth Caliebe; Stefan Gesk; Carl-Joachim Partsch; Reiner Siebert; Rainer Pankau; Jutta Jenderny
Journal:  Mol Cytogenet       Date:  2010-11-05       Impact factor: 2.009

5.  A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

Authors:  B Gilbert-Dussardier; D Bonneau; N Gigarel; M Le Merrer; D Bonnet; N Philip; F Serville; A Verloes; A Rossi; S Aymé
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

6.  Genetic counseling of adults with Williams syndrome: a first study.

Authors:  Katrina Farwig; Amanda G Harmon; Kristina M Fontana; Carolyn B Mervis; Colleen A Morris
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-05-15       Impact factor: 3.908

7.  Sudden unexpected death in a toddler with Williams syndrome.

Authors:  Henry F Krous; Carter Wahl; Amy E Chadwick
Journal:  Forensic Sci Med Pathol       Date:  2008-04-04       Impact factor: 2.007

8.  Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.

Authors:  A Mari; F Amati; R Mingarelli; A Giannotti; G Sebastio; V Colloridi; G Novelli; B Dallapiccola
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

Review 9.  Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Authors:  Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober
Journal:  Genet Med       Date:  2008-07       Impact factor: 8.822

10.  Intracranial arteries in individuals with the elastin gene hemideletion of Williams syndrome.

Authors:  D P Wint; J A Butman; J C Masdeu; A Meyer-Lindenberg; C B Mervis; D Sarpal; C A Morris; K F Berman
Journal:  AJNR Am J Neuroradiol       Date:  2013-07-18       Impact factor: 3.825

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