Fluorescence in situ hybridization detection of two telomeres on the short arm of a derived chromosome 16 in an infant with thrombocytopenia

Cancer Genet Cytogenet. 2000 Jul 15;120(2):99-104. doi: 10.1016/s0165-4608(99)00259-9.

Abstract

We report a case of severe thrombocytopenia with an abnormal bone marrow karyotype described by G-banding analysis as t(16;21)(p?13;q11). Using fluorescence in situ hybridization (FISH) analysis with whole chromosome paints, the chromosome rearrangement was shown to be more complex, with the additional cryptic involvement of the long arm of chromosome 3. The chromosome rearrangement involved the breakpoints 3q26, 16p13.3, and 21q11; this rearrangement has not been previously described. The size of genomic material translocated from the chromosome 16 homologue was too small to be detected by chromosome paint. A 16p-specific telomeric probe was hybridized to locate the translocated 16p material. The 16p telomeric unique sequence DNA was retained on the der(16) chromosome, indicating a more distal breakpoint. This study demonstrates that telomeric translocations can occur that would be undetected by telomeric-specific FISH probes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow Cells / metabolism
  • Bone Marrow Cells / pathology
  • Chromosome Banding
  • Chromosome Painting
  • Chromosomes, Human, Pair 16 / genetics*
  • Chromosomes, Human, Pair 21 / genetics*
  • Chromosomes, Human, Pair 3 / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Male
  • Telomere / genetics*
  • Thrombocytopenia / genetics
  • Thrombocytopenia / pathology*
  • Translocation, Genetic