title: A novel deletion cluster at 13q14.2-q21.33 in an 80-year man with late onset leukemia: Clinical and molecular findings.
abstract: Chromosomal deletions are among the most common genetic events observed in hematologic malignancies; loss of genetic material is regarded as a hallmark of putative tumor suppressor gene localization. We have identified an unusual cluster of deletions at 13q14.2-13q21.33 in an 80-year-old father of a monozygotic twin pair discordant for schizophrenia, who developed chronic leukemia (CLL) at age 69.
  
  
  METHODS
  The breakpoints for individual deletions in this cluster was identified by Affymetrix Human Array 6.0 screening.
  
  
  RESULTS
  The deleted segments harbours a number of genes, most associated with cancer as well as a high concentration of LINEs, SINEs and related repeats. The derived chromosome represents an intra-chromosomal re-arrangement that quickly overtook blood progenitor cells probably before age 69 as a cause of CLL.
  
  
  CONCLUSIONS
  The study highlights the role of ongoing de novo changes at susceptible sites, such as repeat rich regions, in the human genome. Also, it argues for the involvement of genes/deletions in the 13q(14.2-21.33) region in the development of CCL.
authors.affiliation: Department of Biology, Molecular Genetics Unit, The University of Western Ontario, London, ON, Canada.
authors.forename: Kiran
authors.initials: K
authors.lastname: Kumar
authors.forename: Sujit
authors.initials: S
authors.lastname: Maiti
authors.forename: Christina A
authors.initials: CA
authors.lastname: Castellani
authors.forename: Richard
authors.initials: R
authors.lastname: O'Reilly
authors.forename: Shiva M
authors.initials: SM
authors.lastname: Singh
keywords: Copy number variations; LINES; SINES; de novo mutations; deletions; leukemia
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