Analysis of the elastin gene in 60 patients with c...[Hum Genet. 1995]

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1: Hum Genet. 1995 Oct;96(4):444-8.Links

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

Mari A, Amati F, Mingarelli R, Giannotti A, Sebastio G, Colloridi V, Novelli G, Dallapiccola B.

Cattedra di Genetica Umana, Università Tor Vergata, Roma, Italy.

Williams syndrome (WS) is caused by deletion of the elastin (ELN) gene. We have analyzed an intragenic restriction fragment length polymorphism (RFLP) and the gene dosage of ELN using a new probe (FP4) in a series of 60 sporadic patients with a clinical diagnosis of WS. Deletion of the ELN gene was shown in 54 cases, while clinical revaluation of the 6 patients without the deletion did not confirm the diagnosis of WS. These results support the genetic homogeneity of WS, and the high accuracy of ELN molecular analysis, which can be confidenty used for providing genetic counselling to WS families.

PMID: 7557968 [PubMed - indexed for MEDLINE]

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. [Am J Hum Genet. 1996]
Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms. [Hum Genet. 1997]
Elastin region deletions in Williams syndrome. [Genet Test. 1999]
ReviewFISH analysis in patients with clinical diagnosis of Williams syndrome. [Acta Paediatr. 1998]
Review[Genetic diagnosis of Williams syndrome] [Orv Hetil. 1997]

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

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