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Triplication of distal chromosome 10q
  1. Koen Devriendta,
  2. Gert Matthijsa,
  3. Maureen Holvoeta,
  4. Eric Schoenmakersa,b,
  5. Jean-Pierre Frynsa
  1. aCentre for Human Genetics, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium, bFlanders Institute for Biotechnology, Belgium
  1. Dr Devriendt.

Abstract

We describe a patient with a de novo chromosomal aberration with karyotype 46,XY,10q+, presenting clinical features of partial duplication of distal chromosome 10q. Further studies using microsatellites and FISH showed a triplication of distal chromosome 10q. The rearrangement involved both maternal homologues and the middle chromosomal 10q fragment of the triplication was inverted, similar to previously reported chromosomal triplications. Chromosomal triplications may be more frequent than assumed and may share a common molecular mechanism.

  • chromosome 10q
  • triplication
  • FISH
  • cytogenetics

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