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Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation |
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| Authors: | Leslie Domenici Kulikowski Maisa Yoshimoto Fernanda Teixeira da Silva Bellucco Sintia Iole Nogueira Belangero Denise Maria Christofolini Ade Nubia Xavier Pacanaro Adriana Bortolai Marilia de Arruda Cardoso Smith Jeremy A. Squire Maria Isabel Melaragno |
| Affiliation: | a Department of Morphology and Genetics, Universidade Federal de São Paulo, São, Paulo, SP, Brazil;b Department of Pathology and Molecular Medicine, Queen’s University, Kingston, Ontario, Canada;c Unity of Cytogentetics and Clinic Laboratory, Hospital do Servidor Púbico Estadual de, São Paulo, SP, Brazil;d Department of Pathology, LIM 03, Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar 255, CEP 05403-000, São Paulo, SP, Brazil |
| 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. |
| Keywords: | 18q Deletion Terminal deletion Telomere healing Neo-telomere |
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