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

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 st...

Full description

Saved in:
Bibliographic Details
Published in:European journal of medical genetics 2010-11, Vol.53 (6), p.404-407
Main Authors: Kulikowski, Leslie Domenici, Yoshimoto, Maisa, Teixeira da Silva Bellucco, Fernanda, Nogueira Belangero, Sintia Iole, Christofolini, Denise Maria, Xavier Pacanaro, Ade Nubia, Bortolai, Adriana, de Arruda Cardoso Smith, Marilia, Squire, Jeremy A, Melaragno, Maria Isabel
Format: Article
Language:English
Subjects:
18q Deletion
Adolescent
Chromosome Deletion
Chromosomes, Human, Pair 18
Comparative Genomic Hybridization - methods
Female
Humans
In Situ Hybridization, Fluorescence - methods
Intellectual Disability - genetics
Karyotyping
Medical Education
Neo-telomere
Repetitive Sequences, Nucleic Acid - genetics
Telomere - genetics
Telomere - metabolism
Telomere healing
Terminal deletion
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2010.08.007