Unexpected results in the constitution of small supernumerary marker chromosomes

Annalisa Vetro, Emmanouil Manolakos, Michael B. Petersen, Loretta Thomaidis, Thomas Liehr, Gianfranco Croci, Fabrizia Franchi, Maria Marinelli, Emanuela Meneghelli, Babara Dal Bello, Stefania Cesari, Angela Iasci, Giulia Arrigo, Orsetta Zuffardi

Research output: Contribution to journalArticlepeer-review


Traditional approaches for the classification of Small Supernumerary Marker Chromosomes (sSMC), mostly based on FISH techniques, are time-consuming and not always sufficient to fully understand the true complexity of this class of rearrangements. We describe four supernumerary marker chromosomes that, after array-CGH, were interpreted rather differently in respect to the early classification made by conventional cytogenetics and FISH investigations, reporting two types of complex markers which DNA content was overlooked by conventional approaches: 1. the sSMC contains non-contiguous regions of the same chromosome and, 2. the sSMC, initially interpreted as a supernumerary del(15), turns out to be a derivative 15 to which the portion of another chromosome was attached. All are likely derived from partial trisomy rescue events, bringing further demonstration that germline chromosomal imbalances are submitted to intense reshuffling during the embryogenesis, leading to unexpected complexity and changing the present ideas on the composition of supernumerary marker chromosomes.

Original languageEnglish
Pages (from-to)185-190
Number of pages6
JournalEuropean Journal of Medical Genetics
Issue number3
Publication statusPublished - Mar 2012


  • Array-CGH
  • FISH
  • Prenatal diagnosis
  • Supernumerary marker chromosome
  • Telomere capture

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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