Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Nehir Edibe Kurtas, Luciano Xumerle, Lorena Leonardelli, Massimo Delledonne, Alfredo Brusco, Krystyna Chrzanowska, Albert Schinzel, Daniela Larizza, Silvana Guerneri, Federica Natacci, Maria Clara Bonaglia, Paolo Reho, Emmanouil Manolakos, Teresa Mattina, Fiorenza Soli, Aldesia Provenzano, Ahmed H. Al-Rikabi, Edoardo Errichiello, Lusine Nazaryan-Petersen, Sabrina GiglioNiels Tommerup, Thomas Liehr, Orsetta Zuffardi

Research output: Contribution to journalArticle

Abstract

We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contained pericentromeric portions only, whereas eight had additional non-contiguous portions of the same chromosome, assembled together in a disordered fashion by repair-based mechanisms in a chromothriptic event. Maternal hetero/isodisomy was detected with a paternal origin of the sSMC in some cases, whereas in others two maternal alleles in the sSMC region and biparental haplotypes of the homologs were detected. In other cases, the homologs were biparental while the sSMC had the same haplotype of the maternally inherited chromosome. These findings strongly suggest that most sSMCs are the result of a multiple-step mechanism, initiated by maternal meiotic nondisjunction followed by postzygotic anaphase lagging of the supernumerary chromosome and its subsequent chromothripsis.

Original languageEnglish
Pages (from-to)193-200
JournalHuman Mutation
Volume40
Issue number2
DOIs
Publication statusPublished - 2019

Keywords

  • chromothripsis
  • evolutionary trade-off
  • maternal meiotic nondisjunction
  • small supernumerary marker chromosome (sSMC)
  • whole genome paired-end sequencing (WGS)

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    Kurtas, N. E., Xumerle, L., Leonardelli, L., Delledonne, M., Brusco, A., Chrzanowska, K., Schinzel, A., Larizza, D., Guerneri, S., Natacci, F., Bonaglia, M. C., Reho, P., Manolakos, E., Mattina, T., Soli, F., Provenzano, A., Al-Rikabi, A. H., Errichiello, E., Nazaryan-Petersen, L., ... Zuffardi, O. (2019). Small supernumerary marker chromosomes: A legacy of trisomy rescue? Human Mutation, 40(2), 193-200. https://doi.org/10.1002/humu.23683