Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: an update

Am J Med Genet. 1997 Oct 31;72(3):339-42. doi: 10.1002/(sici)1096-8628(19971031)72:3<339::aid-ajmg17>3.0.co;2-u.

Abstract

A father and his 2 daughters were previously determined to carry a small, supernumerary marker chromosome [Chudley et al., 1983]. The origin of this marker could not be determined by standard cytogenetic techniques. In this study, fluorescence in situ hybridization (FISH) studies identified the marker chromosome as a pericentric derivative of chromosome 8. The father has low grade mosaicism for this marker and is phenotypically normal. Both daughters are non-mosaic and show developmental delays and somewhat differing clinical findings. The phenotypes of the 2 sisters are compared with those previously reported for supernumerary der(8) patients. This is the first report of familial transmission of a supernumerary der(8) marker chromosome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Chromosomes, Human, Pair 8*
  • Female
  • Gene Frequency
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Male
  • Mosaicism
  • Pedigree
  • Ring Chromosomes
  • Trisomy* / diagnosis

Substances

  • Genetic Markers