A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences

Luisa Doneda, Paola Gandolfi, Gianfranco Nocera, Lidia Larizza

Research output: Contribution to journalArticle

Abstract

A rare chromosome 5 heterochromatic variant not linked to any clinical sign was identified in a three-generation family. After performing conventional cytogenetics characterization, fluorescence in situ hybridization of D9Z1 indicated that the unusually large qh region of chromosome 5 originated from 9qh, whereas the centromere of the variant chromosome was 5-specific as demonstrated by primed in situ DNA labelling. FISH of probes targeting satellite 3 and β-satellite sequences of 9qh showed that only satellite 3 sequences were present in the variant 5qh region.

Original languageEnglish
Pages (from-to)411-414
Number of pages4
JournalChromosome Research
Volume6
Issue number5
DOIs
Publication statusPublished - 1998

Keywords

  • Chromosome 5
  • Chromosome 9
  • Chromosome rearrangement
  • Fluorescence in situ hybridization
  • Heterochromatin polymorphism

ASJC Scopus subject areas

  • Genetics

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