Chromosomal disorders and their relationship to health and disease are studied using the methods of cytogenetics. Cytogenetic analysis is now an integral diagnostic procedure in prenatal diagnosis. It is also utilized in the evaluation of patients with mental retardation, multiple birth defects, and abnormal sexual development, and in some cases of infertility or multiple miscarriages. Cytogenetic analysis is also useful in the study and treatment of cancer patients and individuals with hematologic disorders. The types of chromosomal abnormalities that can be detected by cytogenetics are numerical aberrations, translocations, duplications, deletions, and inversions.
Chromosomal Aberrations
Chromosomal abnormalities can result from either a variation in the chromosome number or from structural changes. These events may occur spontaneously or can be induced by environmental agents such as chemicals, radiation, and ultraviolet light. However, mutations are most likely due to mistakes that occur when the genes are copied as the cells are dividing to produce new cells. These abnormalities may involve the autosomes, sex chromosomes, or both. The disruption of the DNA sequence or an excess or deficiency of the genes carried on the affected chromosomes results ina mutation.
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