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

Genet Med. 2002 Jan-Feb;4(1):15-9. doi: 10.1097/00125817-200201000-00003.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 18 / genetics*
  • Fathers
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Maternal Age
  • Mothers
  • Paternal Age
  • Syndrome