A novel deletion cluster at 13q14.2-q21.33 in an 80-year man with late onset leukemia: Clinical and molecular findings.
Indian J Hum Genet
; 2013 Jan; 19(1): 96-100
Article
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| ID: sea-147645
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.Palavras-chave
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IMSEAR
Assunto principal:
Idoso de 80 Anos ou mais
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Idoso
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Humanos
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Masculino
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Leucemia
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Deleção de Sequência
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Elementos Nucleotídeos Longos e Dispersos
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Elementos Nucleotídeos Curtos e Dispersos
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Variações do Número de Cópias de DNA
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Mutação
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Aged80
Idioma:
En
Revista:
Indian J Hum Genet
Ano de publicação:
2013
Tipo de documento:
Article