{
  "abstract": "Mulibrey nanism is a rare disorder caused by biallelic tripartite motif containing protein 37 (TRIM37) variants and characterised by prenatal onset growth failure, dysmorphic features, restrictive heart disease and predisposition to tumours. TRIM37 has been linked to regulation of centrosome functions. In chromosomal analysis of two siblings with Mulibrey nanism, we observed mosaic variegated aneuploidies. This prompted us to investigate karyotypes of 10 additional patients with Mulibrey, using fibroblast cultures. In the index patients, the prenatal samples and a postnatal skin biopsy showed a heterogeneous mix of aneuploidies in 7–36% of metaphases. Fibroblast karyotypes of the 10 other patients, who were phenotypically comparable to the index patients, showed clinically relevant, low-level abnormalities in one subject. This is the first report on low-level mosaic aneuploidies in Mulibrey amniocytes and neonatal fibroblasts, detectable by conventional karyotyping. The results are in line with previous observations of segregation errors in human cell lines with TRIM37 defects. Further studies are required to elucidate the prevalence and implications of mosaic aneuploidies in Mulibrey nanism.",
  "authors": [
    {
      "affiliations": [
        "Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"
      ],
      "name": "Anna H Hakonen"
    },
    {
      "affiliations": [
        "Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland",
        "Folkhälsan Research Center, Helsinki, Finland"
      ],
      "name": "Susann Karlberg"
    },
    {
      "affiliations": [
        "Laboratory of Genetics, HUS Diagnostic Centre, Helsinki University Hospital and University of Helsinki, Helsinki, Finland"
      ],
      "name": "Kirsi Kiiski"
    },
    {
      "affiliations": [
        "Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"
      ],
      "name": "Marita Lipsanen-Nyman"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"
      ],
      "name": "Carola Saloranta"
    },
    {
      "affiliations": [
        "Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland",
        "Folkhälsan Research Center, Helsinki, Finland"
      ],
      "name": "Minna Pekkinen"
    },
    {
      "affiliations": [
        "Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland",
        "Folkhälsan Research Center, Helsinki, Finland"
      ],
      "name": "Saila Laakso"
    },
    {
      "affiliations": [
        "Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland",
        "Oslo University Hospital Department of Medical Genetics, Oslo, Oslo, Norway"
      ],
      "name": "Johanna Lehtonen"
    },
    {
      "affiliations": [
        "Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland",
        "Norwegian Centre for Molecular Biosciences and Medicine, University of Oslo, Oslo, Norway"
      ],
      "name": "Janna Saarela"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland",
        "Laboratory of Genetics, HUS Diagnostic Centre, Helsinki University Hospital and University of Helsinki, Helsinki, Finland"
      ],
      "name": "Anna-Kaisa Anttonen"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"
      ],
      "name": "Eveliina Jakkula"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"
      ],
      "name": "Kristiina Aittomäki"
    },
    {
      "affiliations": [
        "Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland",
        "Folkhälsan Research Center, Helsinki, Finland"
      ],
      "name": "Outi Mäkitie"
    }
  ],
  "title": "Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants",
  "uid": "823927a0-8dcc-5cb0-8396-1b4468490e9c"
}