FISH analysis in detecting 9p duplication (p22p24)

P. Guanciali Franchi, G. Calabrese, E. Morizio, E. Modestini, L. Stuppia, R. Mingarelli, G. Palka

Research output: Contribution to journalArticlepeer-review


Authors report on a case of partial 9p duplication, involving the 9p22- 9p24 region. This represents the second case of such duplication in which the breakpoints were precisely defined using fluorescence in situ hybridisation (FISH) with chromosome 9 specific painting and YAC DNA probes, localised onto 9p22-9p24 region. FISH analysis pinpointed chromosome breakpoints in dup(9)(p22p24) and excluded an insertion or a translocation from other chromosomes. The present report supports the segment 9p22-9p24 as the critical region for the observed phenotype of the duplication 9p syndrome.

Original languageEnglish
Pages (from-to)35-37
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number1
Publication statusPublished - 2000


  • Chromosome 9p
  • Duplication
  • FISH
  • Phenotype

ASJC Scopus subject areas

  • Genetics(clinical)


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