17q12 deletion syndrome
17q12 Deletion Syndrome
17q12 deletion syndrome (pronounced: seventeen-q-twelve deletion syndrome) is a rare genetic disorder caused by the deletion of a small piece of chromosome 17. This deletion occurs at a location designated q12.
Etymology
The name 17q12 deletion syndrome is derived from the location of the genetic mutation that causes the disorder. The number 17 refers to chromosome 17, 'q' refers to the long arm of the chromosome, and '12' refers to the location on the q arm.
Symptoms
People with 17q12 deletion syndrome often have developmental delay, intellectual disability, and behavioral problems. They may also have physical abnormalities, such as kidney abnormalities or type 2 diabetes, and some affected individuals have been diagnosed with autism.
Diagnosis
Diagnosis of 17q12 deletion syndrome is typically made through genetic testing, which can identify the deletion of genetic material on chromosome 17. This testing is often done if a person has symptoms of the disorder or if there is a family history of the disorder.
Treatment
There is currently no cure for 17q12 deletion syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy. Medications may be used to manage symptoms such as seizures or behavioral problems.
Prognosis
The prognosis for individuals with 17q12 deletion syndrome varies widely. Some individuals may have mild symptoms and live relatively normal lives, while others may have severe symptoms that require ongoing medical care.
See also
External links
- Medical encyclopedia article on 17q12 deletion syndrome
- Wikipedia's article - 17q12 deletion syndrome
This WikiMD dictionary 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