Caracterización clínica y genética de 80 pacientes con sospecha clínica de síndrome de williams-beuren

Translated title of the contribution: Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of williams-beuren syndrome

Montserrat Milà, Ana Carrió, Aurora Sánchez, David Gómez, Dolores Jiménez, Xavier P. Estivill, Francisca Ballesta

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

BACKGROUND: Williams-Beuren syndrome is a developmental disorder affecting vascular and connective tissues and central nervous system. The syndrome is caused by a submicroscopic deletion in the chromosome 7 implicating the 7q11.23 region. Fluorescence in situ hibridization (FISH) and molecular studies allow us to confirm the clinical suspicion of this syndrome. PATIENTS AND METHODS: We report clinical evaluation, FISH using Elastin Williams/D7S427 probe and molecular study with markers: D7S672, D7S653, D7S489B, D7S2476, D7S1870 and D7S489A, in 80 patients referred to test for Willians-Beuren syndrome. RESULTS: We found hemizygosity for the critical region in 36 patients. From 69 cases studied by FISH, 28 showed the deletion. Molecular studies in 78 cases showed loss of heterozygosity (LOH) in 26 patients. The patients presented the deletion from the paternal or maternal chromosome at equal frequency. Clinical evaluation of mental retardation, facial features, esotopia dental, malocclusion, hoarse voice, supravalvular aortic stenosis (SVAS), hernias, join limitation, WBS personality and mental retardation from positive and negative patients showed estatistical significant differences for all items except mental retardation and joint limitation. The most significant item was the presence of SVAS. CONCLUSION: This study confirms the usefulness of genetic studies as a diagnostic tool for Willians-Beuren Syndrome.

Original languageSpanish
Pages (from-to)46-49
Number of pages4
JournalMedicina Clinica
Volume113
Issue number2
Publication statusPublished - 19 Jun 1999
Externally publishedYes

    Fingerprint

Keywords

  • Cytogenetics
  • FISH
  • Microsatellites
  • Williams-Beuren syndrome

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Milà, M., Carrió, A., Sánchez, A., Gómez, D., Jiménez, D., Estivill, X. P., & Ballesta, F. (1999). Caracterización clínica y genética de 80 pacientes con sospecha clínica de síndrome de williams-beuren. Medicina Clinica, 113(2), 46-49.