Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization

Hum Genet. 1993 Jul;91(6):589-98. doi: 10.1007/BF00205086.


Twenty-seven patients carrying marker chromosomes were previously collected, characterized by cytogenetic techniques, and identified by stepwise fluorescence in situ hybridization (FISH) with alpha-satellite DNA probes. Clinical features of 22 patients are described here and compared to other patients with marker chromosomes similarly identified and reported in the literature.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Aberrations*
  • Congenital Abnormalities / genetics*
  • DNA Probes
  • DNA, Satellite
  • Female
  • Genetic Markers*
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Infant
  • Karyotyping
  • Male
  • Pregnancy
  • Prenatal Diagnosis
  • Ring Chromosomes
  • Risk


  • DNA Probes
  • DNA, Satellite
  • Genetic Markers