Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization

Am J Med Genet. 1993 Apr 1;46(1):77-82. doi: 10.1002/ajmg.1320460113.


Fluorescent in situ hybridization (FISH) identified a cryptic balanced reciprocal translocation in the mother of an infant with the cri-duchat syndrome. A biotinylated probe from a flow-sorted chromosome 5 cosmid library was used to show the distal deletion of 5p15.2 in the propositus and a translocation of this segment to the distal end of 7 at 7p21 in his mother. In a subsequent pregnancy, the fetus was shown to have normal chromosomes using the same 5 cosmid library probe and a locus-specific probe derived from the 5p15.3 region. The importance of incorporating FISH into the routine diagnostic laboratory is discussed.

Publication types

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

MeSH terms

  • Adult
  • Amniocentesis
  • Chromosome Banding
  • Chromosomes, Human, Pair 5*
  • Chromosomes, Human, Pair 7*
  • Cosmids
  • Cri-du-Chat Syndrome / diagnosis
  • Cri-du-Chat Syndrome / genetics*
  • DNA Probes
  • Female
  • Gene Library
  • Humans
  • In Situ Hybridization, Fluorescence
  • In Vitro Techniques
  • Infant, Newborn
  • Karyotyping
  • Pregnancy
  • Translocation, Genetic*


  • DNA Probes