Chromosomal abnormalities are major causes of infertility, miscarriage and birth of handicapped progeny. In human live births, the prevalence of a chromosome aberration is ?0.5% and, of these, 0.1–0.3% correspond to structural chromosome rearrangements such as translocations, inversions, insertions and deletions .Our proband is an infant who had died 4 hours after birth due to a variety of abno...

Natural genetic material may help identify abnormalities and provide insight into the workings of gene expression systems. Disorders associated with chromosomal include single nucleotide polymorphisms (SNPs), minor insertions deletions, significant aberrations. In order to analyse DNA sequences, one most important components biological study, various techniques have been used. Thus, analysis co...

This review article is devoted to the main problems of early diagnostic and prognosis non-muscle-invasive bladder cancer, which accounts for 75 % all newly detected cases cancer according statistics. Chromosomal disorders that have been in urothelial cells can lead development cancer. The highlights existing systems their disadvantage limitations use practice. Special attention given tumor stem...

Information is given in tabular form derived from a synopsis of the human gene map which has been updated continuously since 1973 as part of Mendelian Inheritance in Man (Johns Hopkins University Press, 10th ed, 1992) and of OMIM (Online Mendelian Inheritance in Man, available generally since 1987). The part of the synopsis reproduced here consists of chromosome by chromosome gene lists of loci...

DNA rearrangement rather than point mutation is an emerging hypothesis for human carcinogenesis. Although there is no direct evidence for this hypothesis, indirect evidence is provided by cancer cytogenetics and genetics. It has been suggested that patients with Bloom's syndrome, a disorder of spontaneous chromosomal rearrangement, develop the common fatal internal cancers and thus that genetic...