Evidence for Correlation of Fragile Sites and Chromosomal Breakpoints in Carriers of Constitutional Balanced Chromosomal Rearrangements
Open Access
- 1 January 2011
- journal article
- Published by Walter de Gruyter GmbH in Balkan Journal of Medical Genetics
- Vol. 14 (2), 13-6
- https://doi.org/10.2478/v10034-011-0042-z
Abstract
A molecular cytogenetic study of 251 cases with balanced chromosomal rearrangements detected due to infertility of unclear origin or in prenatal diagnostics with a later normal outcome was done. Balanced translocations (127 cases), inversions (105 cases), insertions (three cases), balanced complex rearrangements (four cases), or derivative chromosomes leading to no imbalance (12 cases), were studied by multicolor banding (MCB) and/or subcentromeric multicolor fluorescence in situ hybridization (subcenM-FISH). Five-hundred and twenty-nine break-events were characterized by molecular cytogenetics. Only 150 of these were unique breakpoints, the remainder were observed between two and 10 times. According to the results obtained, there was cytogenetic co-localization of fragile site (FS) in ~71% of the studied 529 break-events. Nine selected cases with evidence for breakpoints within FS were further analyzed by FS-specific bacterial artificial chromosome (BAC) probes; only one did not show a co-localization. Further detailed molecular analysis will be necessary to characterize the mechanisms and genetic basis for this phenomenon.Keywords
This publication has 9 references indexed in Scilit:
- Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomesGenome Research, 2011
- Triggers for genomic rearrangements: insights into genomic, cellular and environmental influencesNature Reviews Genetics, 2010
- Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported onesInternational Journal of Oncology, 2010
- Molecular Definition of High-resolution Multicolor Banding Probes: First Within the Human DNA Sequence Anchored FISH Banding Probe SetJournal of Histochemistry & Cytochemistry, 2008
- Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints.International Journal of Molecular Medicine, 2007
- Common fragile sites as targets for chromosome rearrangementsDNA Repair, 2006
- DNA structures at chromosomal translocation sitesBioEssays, 2006
- Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlationCytogenetic and Genome Research, 2005
- Microdissection based high resolution multicolor banding for all 24 human chromosomesInternational Journal of Molecular Medicine, 2002