Another small supernumerary marker chromosome (sSMC) derived from chromosome 2: towards a genotype/phenotype correlation

J Histochem Cytochem. 2005 Mar;53(3):367-70. doi: 10.1369/jhc.4B6414.2005.

Abstract

Here we report a prenatally detected small supernumerary marker chromosome (sSMC) derived from chromosome 2 as demonstrated by cenM-FISH (centromere-specific multicolor fluorescence in situ hybridization). By application of a recently described subcentromere-specific probe set (subcenM-FISH) for chromosome 2, the presence of a small partial trisomy due to a karyotype 47,XX,+r(2)(::p11.1->q11.2::) was demonstrated. Including this case, a total of 11 patients with sSMC(2) are described throughout the literature. Based on that data, a first genotype/phenotype correlation according to the size and structure of the marker is suggested.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 2*
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics
  • Genetic Markers
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Phenotype
  • Pregnancy
  • Trisomy*
  • Uniparental Disomy

Substances

  • Genetic Markers