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
Dans Anglais
| IMSEAR
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Sujet âgé de 80 ans ou plus
/
Sujet âgé
/
Humains
/
Mâle
/
Leucémies
/
Délétion de séquence
/
Éléments LINE
/
Éléments SINE
/
Variations de nombre de copies de segment d'ADN
/
Mutation
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Aged80
langue:
Anglais
Texte intégral:
Indian J Hum Genet
Année:
2013
Type:
Article
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