Chromosome 2q deletion
Chromosome 2q Deletion
Chromosome 2q deletion is a rare genetic disorder that results from the deletion of a segment of the long arm (q) of chromosome 2. The condition is characterized by a wide range of physical and developmental abnormalities that vary among affected individuals.
Pronunciation
Chromosome: /ˈkroʊməˌsoʊm/ 2q deletion: /tuː kjuː dɪˈliːʃən/
Etymology
The term "chromosome" is derived from the Greek words "chroma" meaning color and "soma" meaning body. The "2q deletion" refers to the deletion occurring on the long arm (q) of the second chromosome.
Symptoms
Symptoms of Chromosome 2q deletion can vary widely among affected individuals. Common symptoms include intellectual disability, developmental delay, growth retardation, and various physical abnormalities.
Diagnosis
Diagnosis of Chromosome 2q deletion typically involves genetic testing to identify the missing segment of chromosome 2. This can be done through methods such as karyotyping or microarray analysis.
Treatment
There is currently no cure for Chromosome 2q deletion. Treatment is symptomatic and supportive, and may include physical therapy, educational support, and management of any associated medical conditions.
Related Terms
External links
- Medical encyclopedia article on Chromosome 2q deletion
- Wikipedia's article - Chromosome 2q deletion
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