A Williams-szindróma genetikai diagnózisa.

Translated title of the contribution: Genetic diagnosis of Williams syndrome

Z. Urbán, E. Kiss, K. Kádár, J. Szabolcs, K. Csiszár, D. C. Boyd, G. Fekete

Research output: Contribution to journalReview article

4 Citations (Scopus)

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.

Original languageHungarian
Pages (from-to)1749-1752
Number of pages4
JournalOrvosi hetilap
Volume138
Issue number27
Publication statusPublished - Jul 6 1997

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Urbán, Z., Kiss, E., Kádár, K., Szabolcs, J., Csiszár, K., Boyd, D. C., & Fekete, G. (1997). A Williams-szindróma genetikai diagnózisa. Orvosi hetilap, 138(27), 1749-1752.