Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation

Daniela Giardino, Palma Finelli, Silvia Russo, Giulietta Gottardi, Ornella Rodeschini, Maria Gabriella Atza, Federica Natacci, Lidia Larizza

Research output: Contribution to journalArticlepeer-review

Abstract

A child and his mother were found to be mosaic for a small supernumerary marker chromosome (SMC) that was identified and characterized by means of fluorescent in situ hybridization. The marker chromosome was derived from the pericentromeric region of chromosome 2; the involvement of proximal 2q was determined by YAC probes. The proband was referred because of psychotic illness and mild mental retardation, whereas his mother presented only minor dysmorphisms. There are only a few published reports concerning SMC(2) or proximal 2q trisomy. We reviewed the previously reported cases in an attempt to establish genotype-phenotype correlations, which are particularly important when SMCs are identified in prenatal diagnosis.

Original languageEnglish
Pages (from-to)319-323
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume111
Issue number3
DOIs
Publication statusPublished - Aug 15 2002

Keywords

  • Chromosome 2q partial trisomy
  • Clinical phenotype
  • Supernumerary marker chromosome

ASJC Scopus subject areas

  • Genetics(clinical)

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