Human Genetics

, Volume 117, Issue 6, pp 571–582

Reciprocal translocations: a trap for cytogenetists?

  • Roberto Ciccone
  • Roberto Giorda
  • Giuliana Gregato
  • Renzo Guerrini
  • Sabrina Giglio
  • Romeo Carrozzo
  • Maria Clara Bonaglia
  • Emanuela Priolo
  • Carmelo Laganà
  • Romano Tenconi
  • Mariano Rocchi
  • Tiziano Pramparo
  • Orsetta Zuffardi
  • Elena Rossi
Original Investigation

Abstract

We report four cases of subjects with phenotypic abnormalities and mental retardation associated with apparently balanced translocations, two inherited and two de novo, which showed, by molecular analysis, a hidden complexity. All the cases have been analyzed with different molecular techniques, including array-CGH, and in two of them the translocation breakpoints have been defined at the level of base pairs via studies in somatic hybrids containing single derivative chromosomes. We demonstrated that all the translocations were in fact complex rearrangements and that an imbalance was present in three of them, thus accounting for the phenotypic abnormalities. In one case, a Prader–Willi subject, we were not able to determine the molecular cause of his phenotype. This study, while confirming previous data showing unexpected complexity in translocations, further underscores the need for molecular investigations before taking for granted an apparently simple cytogenetic interpretation.

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Roberto Ciccone
    • 1
  • Roberto Giorda
    • 2
  • Giuliana Gregato
    • 1
  • Renzo Guerrini
    • 3
  • Sabrina Giglio
    • 4
  • Romeo Carrozzo
    • 5
  • Maria Clara Bonaglia
    • 2
  • Emanuela Priolo
    • 6
  • Carmelo Laganà
    • 6
  • Romano Tenconi
    • 7
  • Mariano Rocchi
    • 8
  • Tiziano Pramparo
    • 1
  • Orsetta Zuffardi
    • 1
    • 9
  • Elena Rossi
    • 1
  1. 1.Biologia Generale e Genetica MedicaUniversità di PaviaPaviaItaly
  2. 2.IRCSS E. MedeaBosisio PariniLeccoItaly
  3. 3.IRCSS Stella MarisUniversità di PisaPisaItaly
  4. 4.Ospedale MeyerFirenzeItaly
  5. 5.Ospedale San RaffaeleMilanoItaly
  6. 6.Azienda Ospedaliera BBMReggio CalabriaItaly
  7. 7.Genetica ClinicaUniversità di PadovaPadovaItaly
  8. 8.DAPEG Sezione di GeneticaUniversità di BariBariItaly
  9. 9.IRCSS Policlinico San MatteoPaviaItaly

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