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Chromosomal abnormalities are a major cause of genetic disease. It accounts for a large proportion of reproductive wastage, congenital malformations, mental retardation and most importantly, in the pathogenesis of cancer. Chromosomal study, also conventionally known as cytogenetics is indicated to diagnose known chromosomal syndrome, multiple malformations, unexplained psychomotor retardation (with or without dysmorphism), abnormalities of sexual differentiation and development, infertility, monogenic disorder associated with dysmorphism, cancer, recurrent pregnancy loss, pregnancy at risk for aneuploidy (prenatal/preimplantation/preconception) and in coming days for neuropsychiatric disorders, neurodegenerative disorders, microdeletion/microduplication syndromes and so on. Chromosomal study is also indicated for comparative mammalian cytogenetics, chromosome evolution, localization of disease gene, detection of chromosome breakage and mutagenicity study.
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