22q13 deletion syndrome
22q13 Deletion Syndrome
22q13 Deletion Syndrome (pronounced: twenty-two q thirteen deletion syndrome), also known as Phelan-McDermid Syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.
Etymology
The name 22q13 Deletion Syndrome is derived from the specific location of the genetic mutation. The "22" refers to the 22nd chromosome, "q" refers to the long arm of the chromosome, and "13" refers to the region on the q arm.
Symptoms
Symptoms of 22q13 Deletion Syndrome can vary widely among affected individuals. Common symptoms include intellectual disability, delayed development, poor muscle tone (hypotonia), and absent or delayed speech (speech delay). Some individuals may also have autism spectrum disorder or other behavioral problems.
Diagnosis
Diagnosis of 22q13 Deletion Syndrome is typically made through genetic testing, which can identify the deletion of genetic material on chromosome 22. This is often done through a method called fluorescence in situ hybridization (FISH).
Treatment
There is currently no cure for 22q13 Deletion Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support. Medications may also be used to manage symptoms.
Related Terms
- Chromosome
- Genetic disorder
- Intellectual disability
- Autism spectrum disorder
- Fluorescence in situ hybridization
External links
- Medical encyclopedia article on 22q13 deletion syndrome
- Wikipedia's article - 22q13 deletion syndrome
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