In this study we tried to define incidence and types of chromosomal aberrations (CAs) caused by radiotherapy (RT) in circulating lymphocytes from patients with lung cancer. For this purpose, we used cumulative dose-effect relationship, and correlate these data with statistical parameters. CAs were evaluated in terms of chromosome break, dicentric, ring and chromosome gap. Abnormal metaphase num...

BACKGROUND The kinetochore is a multiprotein complex that forms on a chromosomal locus designated as the centromere, which links the chromosome to the spindle during mitosis and meiosis. Most eukaryotes, with the exception of holocentric species, have a single distinct centromere per chromosome, and the presence of multiple centromeres on a single chromosome is predicted to cause breakage and/o...

background: in most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, xy in males and xx in females. case: here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 xx). array comparative genomic hybridization (array-cgh) revealed an unbalanced rearrangement re...

An account is given of the cytogenetic investigations of a girl with Down's syndrome found to have a dicentric duplication of chromosome 21. This tandem type of rearrangement was interpreted as a recombinant derived from a single meiotic crossover between a maternal ring 21 and its normal homologue. A population of cells was also found in which breakage of the dicentric resulted in a chromosome...

The kinetochore, which forms on a specific chromosomal locus called the centromere, mediates interactions between the chromosome and the spindle during mitosis and meiosis. Abnormal chromosome rearrangements and/or neocentromere formation can cause the presence of multiple centromeres on a single chromosome, which results in chromosome breakage or cell cycle arrest. Analyses of artificial dicen...

Biological radiation dose can be estimated from dicentric chromosome frequencies in metaphase cells. Performing these cytogenetic dicentric chromosome assays is traditionally a manual, labor-intensive process not well suited to handle the volume of samples which may require examination in the wake of a mass casualty event. Automated Dicentric Chromosome Identifier and Dose Estimator (ADCI) soft...

Inverted duplications are a common type of copy number variation (CNV) in germline and somatic genomes. Large duplications that include many genes can lead to both neurodevelopmental phenotypes in children and gene amplifications in tumors. There are several models for inverted duplication formation, most of which include a dicentric chromosome intermediate followed by breakage-fusion-bridge (B...

Fluorescence in situ hybridization (FISH) has opened new perspectives for the identification and classification of radiation induced chromosome aberrations. Selective staining of individual human chromosomes by chromosome painting allows a rapid microscopic observation of dicentric and translocation chromosomes. Methods of automated digital image analysis accelerate the evaluation of FISH label...