Trisomy 22
Trisomy 22 is a chromosomal disorder in which an individual has three copies of chromosome 22 in each cell instead of the normal two copies.
Pronunciation
Tri-so-my 22
Etymology
The term "Trisomy 22" is derived from the Greek word "trisomia" meaning "triple condition" and the number 22, which refers to the 22nd pair of human chromosomes.
Definition
Trisomy 22 is a genetic disorder that occurs when a person has three copies of the 22nd chromosome instead of the usual two. This extra genetic material disrupts the normal course of development, causing the characteristic features of Trisomy 22.
Symptoms
The symptoms of Trisomy 22 can vary widely, but often include growth retardation, intellectual disability, and distinctive facial features. Other common symptoms include heart defects, kidney abnormalities, and skeletal abnormalities.
Causes
Trisomy 22 is caused by a mistake in cell division during the development of the egg or sperm or during early fetal development. This error leads to an extra copy of chromosome 22 in every cell of the body.
Diagnosis
Trisomy 22 is typically diagnosed through genetic testing, which can identify the extra chromosome. This can be done during pregnancy through amniocentesis or chorionic villus sampling, or after birth through a blood test.
Treatment
There is no cure for Trisomy 22, and treatment focuses on managing the symptoms and improving the quality of life for the individual. This may include physical therapy, educational support, and treatment for any associated medical conditions.
Related Terms
External links
- Medical encyclopedia article on Trisomy 22
- Wikipedia's article - Trisomy 22
This WikiMD article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski