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Localization of the 17q breakpoint of a constitutional 1;17 translocation in a patient with neuroblastoma within a 25-kb segment located between the ACCN1 and TLK2 genes and near the distal breakpoints of two microdeletions in neurofibromatosis type 1 patients

  • Nadine van Roy
  • , Jo Vandesompele
  • , Geert Berx
  • , Katrien Staes
  • , Mireille van Gele
  • , Els de Smet
  • , Anne de Paepe
  • , Geneviève Laureys
  • , Pauline van der Drift
  • , Rogier Versteeg
  • , Frans van Roy
  • , Frank Speleman

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

We have constructed a 1.4-Mb P1 artificial chromosome/bacterial artificial chromosome (PAC/BAC) contig spanning the 17q breakpoint of a constitutional translocation t(1;17)(p36.2;q11.2) in a patient with neuroblastoma. Three 17q breakpoint-overlapping cosmids were identified and sequenced. No coding sequences were found in the immediate proximity of the 17q breakpoint. The PAC/BAC contig covers the region between the proximally located ACCN1 gene and the distally located TLK2 gene and SCYA chemokine gene cluster. The observation that the 17q breakpoint region could not be detected in any of the screened yeast artificial chromosome libraries and the localization of the 17q breakpoint in the vicinity of the distal breakpoints of two microdeletions in patients with neurofibromatosis type 1 suggest that this chromosomal region is genetically unstable and prone to rearrangements
Original languageEnglish
Pages (from-to)113-120
JournalGenes, chromosomes & cancer
Volume35
Issue number2
DOIs
Publication statusPublished - 2002

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This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

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