A case of maternal uniparental disomy of chromosome 13 is described. The subject is a phenotypically normal male who inherited a t(13;13)(p11.2;p11.2) from his mother who is a carrier of this translocation. The mother was ascertained through a history of recurrent abortion and is phenotypically normal. The translocation in both subjects was studied by cytogenetic and DNA analysis and appears to...

Most Robertsonian translocations are dicentric, suggesting that the location of chromosomal breaks leading to their formation occur in the acrocentric short arm. Previous cytogenetic and molecular cytogenetic studies have shown that few Robertsonian translocations retain ribosomal genes or beta-satellite DNA. Breakpoints in satellite III DNA, specifically between two chromosome 14-specific subf...

Among 102,170 cultured lymphocytes obtained from 9818 individuals from Hiroshima, Japan, aged 9 to 37 years and scored for chromosomal abnormalities, 24 cells that exhibited an extreme degree of damage were encountered. The damage consists of multiple dicentric and even tricentric chromosomes, as well as numerous fragments, many with the appearance of "double minutes." The occurrence of these c...

Accurate digital image analysis of abnormal microscopic structures relies on high quality images and on minimizing the rates of false positive (FP) and negative objects in images. Cytogenetic biodosimetry detects dicentric chromosomes (DCs) that arise from exposure to ionizing radiation, and determines radiation dose received based on DC frequency. Improvements in automated DC recognition incre...

Abstract Background The biological effects of low-dose radiation from cardiac imaging or intervention remain largely unknown. This study aimed to evaluate the ionized catheterization on genomic DNA integrity and inflammatory cytokines in patients operators. Methods Peripheral mononuclear cells (MNCs) were isolated (n=52) operators (n=35) before after coronary angiography and/or percutaneous int...

Aloe L. includes plants of economic interest worldwide for their medicinal properties and ornamental character. In this study, morphological cytogenetic traits were evaluated in a hybrid obtained using jucunda Reyn. as pollen donor A. vera (L.) Burm. f. female parent, to characterize it, determine its agronomic potentialities aspects related reproduction. Conventional protocols morphometric stu...

Telomeres protect eukaryotic chromosomes from illegitimate end-to-end fusions. When this function fails, dicentric chromosomes are formed, triggering breakage-fusion-bridge cycles and genome instability. How efficient is this protection mechanism in normal cells is not fully understood. We created a positive selection assay aimed at capturing chromosome-end fusions in Schizosaccharomyces pombe....

Mouse spermatozoa and androgenetic one-cell embryos (androgenones) at various developmental stages were exposed to etoposide (1 μM), a topoisomerase II (topo II) poison, or to either of two catalytic inhibitors: ICRF-193 (10 μM) or merbarone (50 μM), for 2 h in order to study the clastogenic effects of these drugs on remodeled sperm chromatin. None of the drugs induced structural chromosome abe...

Oral squamous cell carcinomas are characterized by complex, often near-triploid karyotypes with structural and numerical variations superimposed on the initial clonal chromosomal alterations. We used immunohistochemistry combined with classical cytogenetic analysis and spectral karyotyping to investigate the chromosomal segregation defects in cultured oral squamous cell carcinoma cells. During ...

Telomeres which protect the individual chromosomes from disintegration, end-to-end fusion and maintain the genomic integrity during the somatic cell divisions play an important role in cellular aging. Aging and cancer development are linked with each other because cancer is considered a group of complex genetic diseases that develop in old cells and, in both, telomere attrition is involved. Num...