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

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Kulikowski, Leslie Domenici [UNIFESP]
Yoshimoto, Maisa
Bellucco, Fernanda Teixeira da Silva [UNIFESP]
Belangero, Sintia Iole [UNIFESP]
Christofolini, Denise Maria [UNIFESP]
Pacanaro, Ade Nubia Xavier [UNIFESP]
Bortolai, Adriana
Smith, Marilia de Arruda Cardoso [UNIFESP]
Squire, Jeremy A.
Melaragno, Maria Isabel [UNIFESP]
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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. (C) 2010 Elsevier Masson SAS. All rights reserved.
European Journal of Medical Genetics. Amsterdam: Elsevier B.V., v. 53, n. 6, p. 404-407, 2010.