17q12 microdeletion syndrome

17q12 microdeletion 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.

Pronunciation

Seventeen-q-twelve microdeletion syndrome

Etymology

The name "17q12 microdeletion syndrome" is derived from the specific location of the genetic mutation. The "17" refers to chromosome 17, the "q12" refers to the specific band on the chromosome where the deletion occurs, and "microdeletion syndrome" refers to the type of genetic disorder, which is caused by the deletion of a small piece of a chromosome.

Symptoms

People with 17q12 microdeletion syndrome may have a variety of symptoms, including intellectual disability, developmental delay, and distinctive facial features. They may also have abnormalities in various organs, such as the kidneys and the pancreas, and may be at increased risk for certain types of cancer.

Diagnosis

Diagnosis of 17q12 microdeletion syndrome is typically made through genetic testing, which can identify the specific chromosomal deletion.

Treatment

There is currently no cure for 17q12 microdeletion syndrome. Treatment is symptomatic and supportive, and may include physical therapy, educational support, and management of any organ abnormalities.

Related Terms

• Chromosome
• Microdeletion
• Genetic disorder
• Intellectual disability
• Developmental delay
• Cancer

External links

• Medical encyclopedia article on 17q12 microdeletion syndrome
• Wikipedia's article - 17q12 microdeletion syndrome

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