Supernumerary ring chromosome 8: Clinical and molecular cytogenetic characterization in a case report

Eliana Demori, Raffaella Devescovi, Daniela Gambel Benussi, Silvia Dolce, Marco Carrozzi, Nicoletta Vila, Jan Miertus, Antonio Amoroso, Vanna Pecile

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a 3-year-old male with developmental delay, autistic behavior, and minor abnormalities consistent with trisomy 8 syndrome whose cytogenetic analysis revealed mosaicism for a supernumerary ring chromosome (SRC). Fluorescence in situ hybridization (FIBH) studies, using centromeric and yeast artificial chromosome (YAC) probes, were performed to characterize further the supernumerary chromosome. The ring origin has been detected from the short arm of chromosome 8, resulting in r(8)(p10p23.1). Moreover, uniparental disomy (UPD) using microsatellite analysis was excluded. To our knowledge a total of 25 cases, confirmed by FISH, have been reported with either supernumerary marker or ring chromosome 8. We present a detailed clinical and molecular cytogenetic characterization of this additional case in order to better define the genotype-phenotype correlation.

Original languageEnglish
Pages (from-to)288-294
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume130 A
Issue number3
DOIs
Publication statusPublished - Oct 15 2004

Keywords

  • FISH
  • Partial trisomy 8p
  • Supernumerary ring chromosome

ASJC Scopus subject areas

  • Genetics(clinical)

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