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Original article
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
  1. Dieter Kotzota,
  2. Maria-Jose Martineza,
  3. Gulseren Bagcib,
  4. Seher Basaranc,
  5. Alessandra Baumera,
  6. Franz Binkerta,
  7. Lucrecja Brecevica,
  8. Claudio Castelland,
  9. Krystyna Chrzanowskae,
  10. Fabrizio Dutlya,
  11. Anna Gutkowskae,
  12. Sibel Berker Karaüzümb,
  13. Malgorzata Krajewska-Walaseke,
  14. Guven Lulecib,
  15. Peter Minyf,
  16. Mariluce Riegela,
  17. Simone Schuffenhauerg,
  18. Heide Seidelg,
  19. Albert Schinzela
  1. aInstitute for Medical Genetics, University of Zürich, Zürich, Switzerland, bDepartment of Medical Biology and Genetics, Akdeniz University, Antalya, Turkey, cDepartment of Pediatrics, University of Istanbul, Istanbul, Turkey, dGenetic Counselling Service, Bozen, Italy, eThe Children's Memorial Health Institute, Warsaw, Poland, fDepartment of Medical Genetics, Children's Hospital Basel, Basel, Switzerland and Aristogen GmbH, Ingelheim, Germany, gDepartment of Medical Genetics, Children's Hospital, Ludwig Maximilian University München, Germany
  1. Dr Kotzot, Institut für Medizinische Genetik, Universität Zürich, Rämistrasse 74, CH-8001 Zürich, Switzerland. Kotzot{at}medgen.unizh.ch

Abstract

Cytogenetic, FISH, and molecular results of 20 cases with de novo tandem duplications of 18 different autosomal chromosome segments are reported. There were 12 cases with direct duplications, three cases with inverted duplications, and five in whom determination of direction was not possible. In seven cases a rearrangement between non-sister chromatids (N-SCR) was found, whereas in the remaining 13 cases sister chromatids (SCR) were involved. Paternal and maternal origin (7:7) was found almost equally in cases with SCR (3:4) and N-SCR (4:3). In the cases with proven inversion, there was maternal and paternal origin in one case each. Twenty three out of 43 cytogenetically determined breakpoints correlated with common or rare fragile sites. In five cases, including all those with proven inverse orientation, all breakpoints corresponded to common or rare fragile sites. In at least two cases, one with an interstitial duplication (dup(19)(q11q13)) and one with a terminal duplication (dup(8) (p10p23)), concomitant deletions (del(8) (p23p23.3) and del(19)(q13q13)) were found.

  • direct duplication
  • inverted duplication
  • parental origin
  • tandem duplication

https://doi.org/10.1136/jmg.37.4.281

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