FISH analysis in Prader-Willi and Angelman syndrome patients

D. Bettio, N. Rizzi, D. Giardino, G. Grugni, V. Briscioli, A. Selicorni, F. Carnevale, F. Larizza

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion.

Original languageEnglish
Pages (from-to)224-228
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume56
Issue number2
DOIs
Publication statusPublished - 1995

Keywords

  • Angelman syndrome
  • chromosome 15
  • FISH analysis
  • Prader-Willi syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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