Chromosomal Abnormalities

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Chromosome abnormalities can be numerical or structural and usually occur as a result of errors. utilizes a mixture of multi-colored fluorescent labeled to assess cells for chromosome abnormalities. is defined as the occurrence of one or more extra or missing leading to an unbalanced chromosome complement, or, any chromosome number that is not an exact multiple of the haploid number. Abnormal chromosome number is one of the most common features of and is caused by many mechanisms. is the failure of chromosome pairs to separate properly during anaphase, resulting in a cell with chromosome imbalance. This failure to separate is frequently caused by defects. Spindle, or mitotic, checkpoints are mechanisms that control the proper cell division in eukaryotic cells. To achieve proper cell division, the two on the sister chromatids must be attached to opposite spindle poles. Spindle checkpoints assess the cell for damage and will delay division or target the cell for destruction if repairs are not accurately completed. A weakened or damaged spindle checkpoint would generate daughter cells either lacking a chromosome copy or possessing too many copies. is frequently found in bladder cancer. Bladder cancer is the fourth most common cancer in men and the seventh most common cancer in women in the United States. Bladder cancer rate is 80%, making it a chronic illness. Diagnosis of low grade and recurrent bladder cancer has been difficult due to the low of urine cytology and the cost and invasiveness of . A new FISH assay has been developed that tests for aneuploidy of the chromosomes 3, 7 and 17 frequently associated with bladder cancer. is the loss of a part of the chromosome or DNA sequences. Loss of genetic material can range from a single base pair to an entire piece of chromosome and can be caused by losses from , unequal crossing over, chromosomal within a chromosomal inversion and breaking without rejoining. can be used to detect the loss of the 9p21 locus found in more than 60% of bladder cancers. is the production of multiple copies of a region of DNA that contains a gene; it may occur as an error in a retrotransposition event, a homologous , or duplication of an entire chromosome. is the gold standard for detecting amplification of the HER2/neu (Human Epidermal growth factor Receptor 2) gene or its protein product. of this receptor is found in 15 to 20 percent of breast cancers and also occurs in ovarian cancer, stomach cancer, and serous endometrial carcinoma. Chromosomal is an abnormality caused when a portion of one chromosome is transferred to a nonhomologous . Cancer, infertility and a minority of Down's syndrome cases can be attributed to this event. Chromosomal occurs when a piece of chromosome breaks off and reattaches itself in the direction. of this defect usually do not experience any abnormalities if the chromosome rearrangement does not result in missing or additional genetic information.


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