Monosomy

From WikiMD's Wellness Encyclopedia

Monosomy is a type of chromosomal abnormality in which there is loss of one chromosome from a normal diploid organism. This can occur in any chromosome, but is most commonly seen in the sex chromosomes. Monosomy can lead to a variety of genetic disorders, depending on the specific chromosome that is missing.

Causes[edit | edit source]

Monosomy can occur due to a variety of reasons. The most common cause is nondisjunction, which is the failure of a pair of chromosomes to separate properly during meiosis. This can result in one gamete receiving two copies of a chromosome and the other receiving none. If a gamete missing a chromosome fertilizes with a normal gamete, the resulting offspring will have monosomy.

Types[edit | edit source]

There are several types of monosomy, including:

  • Turner syndrome: This is a condition in which a female is missing one X chromosome. Symptoms can include short stature, infertility, and heart defects.
  • Cri du chat syndrome: This is caused by a deletion of the short arm of chromosome 5. Symptoms can include intellectual disability, delayed development, and a distinctive cry that sounds like a cat.

Diagnosis[edit | edit source]

Monosomy can be diagnosed through a variety of methods, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH).

Treatment[edit | edit source]

There is currently no cure for monosomy. Treatment typically focuses on managing symptoms and improving quality of life. This can include physical therapy, speech therapy, and educational support.

See also[edit | edit source]

Monosomy Resources

Contributors: Prab R. Tumpati, MD