3q29 microdeletion syndrome
3q29 microdeletion syndrome is a rare genetic disorder characterized by a range of medical, developmental, and psychiatric features. It is caused by a deletion of a small piece of chromosome 3 in each cell. The deletion occurs at a location designated q29.
Pronunciation
Three-Q-Twenty-Nine Microdeletion Syndrome
Etymology
The name "3q29 microdeletion syndrome" is derived from the location of the genetic mutation that causes the disorder. The "3q29" refers to the specific location on the third chromosome where the deletion occurs, and "microdeletion" refers to the small size of the genetic material that is missing.
Symptoms
Individuals with 3q29 microdeletion syndrome may have a variety of symptoms, including intellectual disability, delayed development, distinctive facial features, and psychiatric conditions such as schizophrenia and anxiety disorders. However, the symptoms can vary widely among affected individuals.
Causes
3q29 microdeletion syndrome is caused by a deletion of a small piece of chromosome 3 in each cell. The deletion occurs at a location designated q29. This deletion can occur spontaneously or it can be inherited from a parent who carries the deletion.
Diagnosis
Diagnosis of 3q29 microdeletion syndrome is typically made through genetic testing, which can identify the characteristic deletion of genetic material on chromosome 3.
Treatment
There is currently no cure for 3q29 microdeletion syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy for developmental delays, as well as medication and psychotherapy for psychiatric symptoms.
Related Terms
- Genetic disorder
- Chromosome 3
- Intellectual disability
- Schizophrenia
- Anxiety disorders
- Genetic testing
- Physical therapy
- Occupational therapy
- Speech therapy
- Psychotherapy
External links
- Medical encyclopedia article on 3q29 microdeletion syndrome
- Wikipedia's article - 3q29 microdeletion 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