title: [Genetic diagnosis of Williams syndrome].
abstract: Williams syndrome is a complex developmental disorder. The major cardiovascular component of Williams syndrome is supravalvular aortic stenosis, a progressive disease that may need surgical repair. Williams syndrome is associated with heterozygous microdeletion in the chromosomal region 7q11.23 encompassing the elastin gene. We have identified a new, highly informative tetranucleotide repeat polymorphism within the human elastin gene. This marker together with other, previously described elastin gene markers was used to show deletion of the elastin gene in nine sporadic Williams syndrome patients from Hungary. Application of polymorphisms within and flanking the elastin gene on chromosome 7 provides a fast, polymerase chain reaction based method for mutational analysis of Williams syndrome patients.
authors.affiliation: Semmelweis Orvostudományi Egyetem, II. Gyermekklinika Budapest.
authors.forename: Z
authors.initials: Z
authors.lastname: Urbán
authors.forename: E
authors.initials: E
authors.lastname: Kiss
authors.forename: K
authors.initials: K
authors.lastname: Kádár
authors.forename: J
authors.initials: J
authors.lastname: Szabolcs
authors.forename: K
authors.initials: K
authors.lastname: Csiszár
authors.forename: D C
authors.initials: DC
authors.lastname: Boyd
authors.forename: G
authors.initials: G
authors.lastname: Fekete
mesh_terms: D001024:Aortic Valve Stenosis / Q000209:etiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D004549:Elastin / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018980:Williams Syndrome / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D004549:Elastin