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Eur J Med Genet. 2010 Nov-Dec;53(6):404-7. doi: 10.1016/j.ejmg.2010.08.007. Epub 2010 Sep 15.

Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation.

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  • 1Department of Morphology and Genetics, Universidade Federal de São Paulo, São, Paulo, SP, Brazil. lesliekulik@hc.usp.br


Deletion of the long arm of chromosome 18 is one of the most common segmental aneusomies compatible with life and usually involves a deletion of the terminal chromosomal region. However, the mechanisms implicated in the stabilization of terminal deletions are not well understood. In this study, we analyzed a girl with moderate mental retardation who had a cytogenetically visible terminal 18q deletion. In order to characterize the breakpoint in the terminal 18q region, we used fluorescence In situ hybridization (FISH) with bacterial artificial chromosomes (BACs) and pan-telomeric probes and also the array technique based on comparative genomic hybridization (array-CGH). FISH with pan-telomeric probes revealed no signal in the terminal region of the deleted chromosome, indicating the absence of normal telomere repeat (TTAGGG)n sequences in 18q. We suggest that neo-telomere formation by chromosome healing was involved in the repair and stabilization of this terminal deletion.

Copyright © 2010 Elsevier Masson SAS. All rights reserved.

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