The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Ana Carolina S. Fonseca, Adriano Bonaldi, Simone A. S. Fonseca, Paulo A. Otto, Fernando Kok, Mads Bak, Niels Tommerup, Angela M. Vianna-Morgante

3 Citations (Scopus)
Original languageEnglish
Article number106
JournalMolecular Cytogenetics
Volume8
Pages (from-to)1-10
Number of pages10
ISSN1755-8166
DOIs
Publication statusPublished - 30 Dec 2015

Keywords

  • Familial karyotypically balanced translocation
  • 5q23.2-23.3 duplication
  • LMNB1 duplication
  • 2p14 deletion
  • CEP68
  • RAB1A and ACTR2 deletion
  • 2p14p15 microdeletion syndrome

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