Structural Chromosome Abnormalities

Structural chromosome abnormalities are genetic errors in which there is a change in the structure of a chromosome. These errors can involve a missing, extra, or rearranged piece of the chromosome. The most common type of structural chromosome abnormality is aneuploidy, which occurs when an individual has an abnormal number of chromosomes. Other structural chromosome abnormalities can occur when pieces of chromosomes break off, or become rearranged in a different order. Structural chromosome abnormalities can have serious health effects, including developmental delays, physical abnormalities, and an increased risk of cancer. In some cases, they can also cause infertility. Structural chromosome abnormalities can be caused by a number of different factors, including errors in cell division, environmental exposure, or exposure to certain medications. These abnormalities can be detected through a variety of genetic tests, including karyotyping, fluorescent in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). Treatment options for structural chromosome abnormalities vary, depending on the type and severity of the abnormality. In some cases, medications or surgery may be used to correct the abnormality. In other cases, genetic counseling and support may be necessary.