Chromosomal deletion

From WikiMD's Wellness Encyclopedia

Chromosomal Deletion

A chromosomal deletion is a type of genetic mutation that occurs when a part of a chromosome is missing or deleted. This can lead to a variety of genetic disorders and diseases, as the missing genetic material can result in the loss of necessary genes.

Overview[edit | edit source]

Chromosomal deletions can occur in any chromosome and can range in size from a single gene to an entire arm of a chromosome. They can occur spontaneously during the formation of egg or sperm, or they can be inherited from a parent who carries the deletion.

Causes[edit | edit source]

The exact cause of chromosomal deletions is not known, but they are thought to occur as a result of errors during meiosis, the process by which egg and sperm cells are formed. Other factors, such as exposure to certain environmental toxins or radiation, may also increase the risk of chromosomal deletions.

Effects[edit | edit source]

The effects of a chromosomal deletion depend on the size of the deletion and the specific genes that are missing. In some cases, a deletion may have little to no effect on the individual. In other cases, it can lead to serious health problems, including intellectual disability, physical abnormalities, and increased risk of certain diseases.

Diagnosis and Treatment[edit | edit source]

Chromosomal deletions can be diagnosed through genetic testing, which can identify the presence of missing genetic material. Treatment for chromosomal deletions typically involves managing the symptoms and health problems associated with the deletion. This can include medical therapy, surgery, and genetic counseling.

See Also[edit | edit source]

References[edit | edit source]

Contributors: Prab R. Tumpati, MD