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A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.

Authors
  • Unterberger, Iris1
  • Dobesberger, Judith2
  • Schober, Harald3
  • Krabichler, Birgit4
  • Lamina, Claudia5
  • Schatz, Ulrich4
  • Zschocke, Johannes4
  • Luef, Gerhard1
  • Kotzot, Dieter4
  • Fauth, Christine6
  • 1 Department of Neurology, Innsbruck Medical University, Anichstraße 35, A-6020 Innsbruck, Austria. , (Austria)
  • 2 Department of Neurology, Innsbruck Medical University, Anichstraße 35, A-6020 Innsbruck, Austria; Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University of Salzburg, Ignaz-Harrer-Straße 79, A-5020 Salzburg, Austria. , (Austria)
  • 3 Department of Pediatrics, Landeskrankenhaus Feldkirch, Carinagasse 47, A-6807 Feldkirch, Austria. , (Austria)
  • 4 Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Peter-Mayr-Straße 1, A-6020 Innsbruck, Austria. , (Austria)
  • 5 Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schöpfstraße 41, A-6020 Innsbruck, Austria. , (Austria)
  • 6 Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Peter-Mayr-Straße 1, A-6020 Innsbruck, Austria. Electronic address: [email protected] , (Austria)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Nov 01, 2019
Volume
62
Issue
11
Pages
103564–103564
Identifiers
DOI: 10.1016/j.ejmg.2018.10.016
PMID: 30385235
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by childhood-onset drug-resistant epilepsy, behavioral problems and variable cognitive impairment. While most cases occur sporadically, parent-to-child transmission of ring 20 mosaicism has only been reported in a few exceptional families. We identified a further family with mother-to-child transmission of ring 20 mosaicism. Detailed characterization of the ring chromosome showed a complete ring with preserved telomere repetitive sequences. SNP genotyping excluded mosaic uniparental disomy and indicated that the chromosome was transmitted without recombination from mother to child. These results corroborate the findings of a previous study and support the hypothesis that inherited mosaicism is due to transmission of an unstable chromosome either prone to ring opening or to ring re-formation. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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