View source for 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==
* [[Chromosome]]
* [[Genetic disorder]]
* [[Microdeletion]]
* [[Intellectual disability]]
* [[Developmental delay]]
* [[Microcephaly]]
* [[Hypotonia]]

[[Category:Genetic disorders]]
[[Category:Rare diseases]]
[[Category:Syndromes]]

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