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 language | English (US) |
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Pages (from-to) | 15-19 |
Number of pages | 5 |
Journal | Genetics in Medicine |
Volume | 4 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2002 |
Keywords
- 18p- syndrome
- Aneusomy
- Breakpoint cluster
- Deletion
- Parental origin
ASJC Scopus subject areas
- Genetics(clinical)