Paediatrics Publications
Title
A novel deletion cluster at 13q14.2-q21.33 in an 80-year man with late onset leukemia: Clinical and molecular findings
Document Type
Article
Publication Date
1-1-2013
Journal
Indian Journal of Human Genetics
Volume
19
Issue
1
First Page
96
Last Page
100
URL with Digital Object Identifier
10.4103/0971-6866.112916
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. Materials and 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.