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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)571-582
Number of pages12
JournalHuman Genetics
Issue number6
Publication statusPublished - Oct 2005

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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