Cytogenetic mapping of a novel locus for type II Waardenburg syndrome

Angelo Selicorni, Silvana Guerneri, Antonia Ratti, Antonio Pizzuti

Research output: Contribution to journalArticle

Abstract

An Italian family in which Waardenburg syndrome type II (WS2) segregates together with a der(8) chromosome from a (4p;8p) balanced translocation was studied. Cytogenetic analysis by painting and subtelomeric probe hybridization positioned the chromosome 8 breakpoint at p22-pter. Fluorescence in situ hybridization analysis with yeast artificial chromosomes from a contig spanning the 8p21-pter region refined the breakpoint in an interval of less than 170 kb between markers WI-3823 and D8S1819. The only cloned gene for WS2 is that for microphtalmia (MITF) on chromosome 3p. In this family, MITF mutations were excluded by sequencing the whole coding region. The 8p23 region may represent a third locus for WS2 (WS2C).

Original languageEnglish
Pages (from-to)64-67
Number of pages4
JournalHuman Genetics
Volume110
Issue number1
DOIs
Publication statusPublished - Jan 2002

Fingerprint

Waardenburg Syndrome
Chromosomes, Human, Pair 8
Cytogenetics
Chromosome Breakpoints
Yeast Artificial Chromosomes
Paintings
Cytogenetic Analysis
Fluorescence In Situ Hybridization
Chromosomes
Mutation
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Cytogenetic mapping of a novel locus for type II Waardenburg syndrome. / Selicorni, Angelo; Guerneri, Silvana; Ratti, Antonia; Pizzuti, Antonio.

In: Human Genetics, Vol. 110, No. 1, 01.2002, p. 64-67.

Research output: Contribution to journalArticle

Selicorni, Angelo ; Guerneri, Silvana ; Ratti, Antonia ; Pizzuti, Antonio. / Cytogenetic mapping of a novel locus for type II Waardenburg syndrome. In: Human Genetics. 2002 ; Vol. 110, No. 1. pp. 64-67.
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