Molecular characterization of 18p deletions: Evidence for a breakpoint cluster

Rebecca L. Schaub, Xavier T. Reveles, Jacques Baillargeon, Robin J. Leach, Jannine D. Cody

Research output: Contribution to journalArticle

31 Scopus citations

Abstract

Purpose: To determine the size and parental origin of the deletion in individuals with 18p- syndrome. Methods: Molecular and fluorescence in situ hybridization analyses of the pericentromeric region of chromosome 18 were performed on genomic DNA and chromosomes from study participants. Results: The majority of the breakpoints were located between markers D18S852 on 18p and D18S1149 on 18q, a distance of approximately 4 Mb. The parental origin of these deletions appears to be equally distributed, half maternally derived and half paternally derived. Conclusion: The distributions of both the size and parental origin of the 18p deletions support the presence of a breakpoint cluster in the 18p- syndrome.

Original languageEnglish (US)
Pages (from-to)15-19
Number of pages5
JournalGenetics in Medicine
Volume4
Issue number1
DOIs
StatePublished - Jan 2002
Externally publishedYes

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Keywords

  • 18p- syndrome
  • Aneusomy
  • Breakpoint cluster
  • Deletion
  • Parental origin

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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