Clinical findings in a patient mosaic for a supernumerary ring chromosome 20

Am J Med Genet. 2000 Mar 20;91(3):171-4. doi: 10.1002/(sici)1096-8628(20000320)91:3<171::aid-ajmg2>3.0.co;2-z.

Abstract

Marker chromosomes present a problem in genetic counseling because there are often no clear phenotype-karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 20 determined by fluorescence in situ hybridization (FISH) and compare these findings to others reported in the literature.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Apgar Score
  • Child, Preschool
  • Chromosome Banding
  • Chromosomes, Human, Pair 20 / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Mosaicism / genetics*
  • Ring Chromosomes*