Interstitial deletions are not the main mechanism leading to 18q deletions
Journal Article
·
· American Journal of Human Genetics; (United States)
OSTI ID:7199966
- Thomas Jefferson Univ., Philadelphia, PA (United States)
- Wistar Institute of Anatomy and Biology, Philadelphia, PA (United States)
Most patients who present with the 18q- syndrome have an apparent terminal deletion of the long arm of chromosome 18. For precise phenotypic mapping of this syndrome, it is important to determine whether the deletions are terminal deletions or interstitial deletions. A human telomeric YAC clone has been identified that hybridizes specifically to the telomeric end of 18q. This clone was characterized and used to analyze seven patients with 18q deletions. By FISH and Southern blotting analysis, all patients were found to lack this chromosomal region on their deleted chromosome, demonstrating that the patients do not have cryptic interstitial deletions. 30 refs., 3 figs.
- OSTI ID:
- 7199966
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:6; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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