2p15-16.1 microdeletion syndrome

2p15-16.1 microdeletion syndrome is a rare genetic disorder characterized by a variety of physical and mental abnormalities. The syndrome is caused by a deletion of genetic material from a specific region of chromosome 2.

Pronunciation

The pronunciation of 2p15-16.1 microdeletion syndrome is "two p fifteen to sixteen point one microdeletion syndrome".

Etymology

The name "2p15-16.1 microdeletion syndrome" is derived from the specific location of the genetic deletion that causes the syndrome. The "2p" refers to the short arm (p) of chromosome 2, and "15-16.1" specifies the exact region of the chromosome where the deletion occurs. "Microdeletion" refers to the small size of the deleted genetic material.

Symptoms

Individuals with 2p15-16.1 microdeletion syndrome may exhibit a range of symptoms, including intellectual disability, developmental delay, and physical abnormalities such as microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features. However, the severity and specific symptoms can vary widely among affected individuals.

Diagnosis

Diagnosis of 2p15-16.1 microdeletion syndrome is typically made through genetic testing, which can identify the characteristic deletion of genetic material on chromosome 2.

Treatment

There is currently no cure for 2p15-16.1 microdeletion syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and management of any associated medical conditions.

Related Terms

External links

Medical encyclopedia article on 2p15-16.1 microdeletion syndrome
Wikipedia's article - 2p15-16.1 microdeletion syndrome

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