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Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Journal article

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

  • Kurtas NE Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Xumerle L Department of Biotechnology, University of Verona, Verona, Italy.
  • Leonardelli L Department of Biotechnology, University of Verona, Verona, Italy.
  • Delledonne M Department of Biotechnology, University of Verona, Verona, Italy.
  • Brusco A Department of Medical Sciences, University of Turin, Torino, Italy.
  • Chrzanowska K Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Schinzel A Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Larizza D Pediatrics and Adolescentology Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Guerneri S Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Natacci F Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Bonaglia MC Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Reho P Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Firenze, Italy.
  • Manolakos E Laboratory of Genetics, Access to genome P.C., Thessaloniki, Greece.
  • Mattina T Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
  • Soli F Department of Genetics, Santa Chiara Hospital, Trento, Italy.
  • Provenzano A Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Firenze, Italy.
  • Al-Rikabi AH Institute of Human Genetics, Jena University Hospital, Jena, Germany.
  • Errichiello E Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Nazaryan-Petersen L Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Giglio S Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Firenze, Italy.
  • Tommerup N Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Liehr T Institute of Human Genetics, Jena University Hospital, Jena, Germany.
  • Zuffardi O Department of Molecular Medicine, University of Pavia, Pavia, Italy.
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  • 2018-11-10
Published in:
  • Human mutation. - 2019
English 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.
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  • English
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closed
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https://sonar.ch/global/documents/178952
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