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

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

Author Kulikowski, Leslie Domenici Autor UNIFESP Google Scholar
Yoshimoto, Maisa Google Scholar
Silva Bellucco, Fernanda Teixeira da Autor UNIFESP Google Scholar
Nogueira Belangero, Sintia Iole Autor UNIFESP Google Scholar
Christofolini, Denise Maria Autor UNIFESP Google Scholar
Xavier Pacanaro, Ade Nubia Autor UNIFESP Google Scholar
Bortolai, Adriana Google Scholar
Cardoso Smith, Marilia de Arruda Autor UNIFESP Google Scholar
Squire, Jeremy A. Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Queens Univ
Hosp Servidor Pub Estadual
Abstract 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.
Keywords 18q Deletion
Terminal deletion
Telomere healing
Language English
Sponsor Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Date 2010-11-01
Published in European Journal of Medical Genetics. Amsterdam: Elsevier B.V., v. 53, n. 6, p. 404-407, 2010.
ISSN 1769-7212 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 404-407
Access rights Closed access
Type Article
Web of Science ID WOS:000285186900011

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