Chromosomal Aberrations

Chromosomal Aberrations are structural changes in the arrangement of genetic material in a cell’s nucleus. They are significant as they can lead to a variety of genetic disorders, including intellectual disability, physical malformations and reproductive problems. Chromosomal abnormalities are diagnosed by examining the structure and number of chromosomes in a cell. Common techniques used in the diagnosis of chromosomal aberrations include karyotyping, fluorescent in situ hybridization and array comparative genomic hybridization. Chromosomal abnormalities are notable for their association with a variety of diseases and can be used as a tool for diagnosis and treatment of many genetic disorders.