BACKGROUND Mutation analysis and cytogenetic testing in clear cell renal cell carcinoma (ccRCC) is not yet implemented in a routine diagnostics of ccRCC. MATERIAL AND METHODS We characterized the chromosomal alterations in 83 ccRCC tumors from Polish patients using whole genome SNP genotyping assay. Moreover, the utility of next generation sequencing of cell free DNA (cfDNA) in patients plasm...

Polymorphisms of the p53 gene, which participates in DNA repair, can affect the functioning of the p53 protein. The Arg and Pro variants in p53 codon 72 were shown to have different regulation properties of p53-dependent DNA repair target genes that can affect various levels of cytogenetic aberrations in chronic hepatitis B patients. The present study aimed to examine the frequency of chromosom...

OBJECTIVE Chromosomal aberrations are common causes of multiple anomaly syndromes. Recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques. MATERIALS AND METHODS In this retrospective study, the incidences of chromosomal aberrations were evaluated in a six year period from 2005 to 2011 i...

introduction: the prevalence of somatic chromosomal abnormalities in infertile male individuals has been reported to vary in different literatures. the aim of this study was to investigate the frequency of chromosomal aberrations among infertile men referred to the cytogenetic laboratory of iran blood transfusion organization research centre (ibto). materials and methods: chromosomal analysis w...

this report presents the cytogenetic findings (g -banded chromosomal analysis} in 383 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. chromosomal aberrations were found in 63 116.5%) of these cases, free trisomy 21 (7%) being the most common abnormality , followed by 47, xxykaryotype (4%). the breakdown figures for each group is discussed in the text.

Cytogenetic analysis of melanoma and nonmelanoma skin cancers has revealed recurrent aberrations, the frequency of which is reflective of malignant potential. Highly aberrant karyotypes are seen in melanoma, squamous cell carcinoma, actinic keratosis, Merkel cell carcinoma and cutaneous lymphomas with more stable karyotypes seen in basal cell carcinoma, keratoacanthoma, Bowen's disease and derm...

The study of chromosomal aberrations has facilitated the understanding of tumorigenesis. By applying molecular genetic techniques to regions highlighted by cytogenetic study, many genes important in tumorigenesis have been identified. This review will describe the cytogenetic and molecular cytogenetic techniques used to identify these changes. The clinical information that they can provide, inc...

A new zero–inflated Poisson model is introduced for cytogenetic estimation of partial body radiation dose and fraction of the body irradiated. Bayes factors are also presented to detect if a sample of chromosomal aberrations in blood cells results from partial or whole body irradiation. One example of simulated cytogenetic exposure is shown to demonstrate the usefulness of this methodology in c...