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

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. Genet Med 2002:4(1):15–19.