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

Am J Med Genet. 2002 Aug 15;111(3):319-23. doi: 10.1002/ajmg.10537.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Child Development Disorders, Pervasive / etiology
  • Child Development Disorders, Pervasive / genetics
  • Chromosomes, Human, Pair 2*
  • Craniofacial Abnormalities / etiology
  • Craniofacial Abnormalities / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / etiology
  • Intellectual Disability / genetics
  • Male
  • Mosaicism*
  • Phenotype*
  • Ring Chromosomes*