Identification of de novo chromosome rearrangements: five cases analyzed with differential chromosome painting

Am J Med Genet. 2002 Mar 15;108(3):182-6. doi: 10.1002/ajmg.10257.

Abstract

We report on five cases of de novo structural chromosome rearrangements that were difficult to identify by conventional G-banding analysis. In all five cases, differential chromosome painting (DCP) provided evidence for the presence of an additional segment and its origin. A combination of DCP with subsequent conventional fluorescence in situ hybridization (FISH) analysis using adequate locus-specific probes and reexamination of G-banding patterns resulted in successful identification of the rearrangements. Their karyotypes were finally interpreted as 46,XY,der(1)(qter --> q42.1::p36.3 --> qter) in case 1; 46,XY,der(8)(8pter -->8q24.3::8q24.3 --> 8q23.2::?p11.2 --> ?ps) in case 2; 47,XY,+der(10)(pter --> q11) in case 3; 46,XX,der(3)(17pter --> 17p11.2::3p26 --> 3qter) in case 4; and 46,XY,dup(1) (pter --> q32::q25 --> qter) in case 5.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Banding
  • Chromosome Painting
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 10 / genetics
  • Chromosomes, Human, Pair 3 / genetics
  • Chromosomes, Human, Pair 8 / genetics
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Translocation, Genetic*