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- Title
FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.
- Authors
Ballif, Blake C; Kashork, Catherine D; Shaffer, Lisa G
- Abstract
Cytogenetically defined terminal deletions are thought to be a major, yet underappreciated, cause of mental retardation and multiple congenital anomalies. The mechanisms by which terminal deletions arise and are stabilized are not completely understood; although all ends of human chromosomes must have a telomeric cap to be stable. At least three mechanisms exist to maintain chromosome ends with cytogenetically defined terminal deletions: stabilization of terminal deletions through a process of telomere regeneration (termed 'telomere healing'), retention of the original telomere producing interstitial deletions, and formation of derivative chromosomes by obtaining a different telomeric sequence through cytogenetic rearrangement (termed 'telomere capture'). We used chromosome-specific subtelomeric probes and FISH to characterize cytogenetically defined terminal deletions in patients with 1 p36 monosomy. Based on the current resolution of these subtelomeric probes, our results indicate that cytogenetically defined terminal deletions of 1 p36 are likely to occur through all three mechanisms, although we speculate that the majority of cases were stabilized through telomere regeneration. These results demonstrate the use of chromosome-specific subtelomeric probes as an efficient first step toward uncovering the mechanisms that result in the stabilization of cytogenetically defined terminal deletions.
- Subjects
CYTOGENETICS; INTELLECTUAL disabilities; GENETIC disorders
- Publication
European Journal of Human Genetics, 2000, Vol 8, Issue 10, p764
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5200536