2q37 monosomy

2q37 Monosomy

2q37 Monosomy (pronounced: two-q-thirty-seven monosomy) is a rare chromosomal disorder that results from the deletion of the end (terminal) of the long arm (q) of chromosome 2. The condition is also known as 2q37 deletion syndrome or Albright hereditary osteodystrophy-like syndrome.

Etymology

The term "2q37 Monosomy" is derived from the specific location of the chromosomal deletion. In this case, "2" refers to chromosome 2, "q" refers to the long arm of the chromosome, and "37" refers to the specific banding pattern region where the deletion occurs. "Monosomy" refers to the presence of only one copy of a particular chromosome in a cell instead of the normal two.

Symptoms and Diagnosis

Individuals with 2q37 Monosomy may exhibit a variety of symptoms, including intellectual disability, growth retardation, autism spectrum disorder, and unique facial features. Diagnosis is typically made through genetic testing, specifically chromosomal microarray analysis or fluorescence in situ hybridization (FISH).

Treatment and Management

There is currently no cure for 2q37 Monosomy. Treatment is symptomatic and supportive, often involving a team of specialists. This may include genetic counseling, physical therapy, occupational therapy, and speech therapy.

Related Terms

• Chromosomal deletion
• Monosomy
• Genetic disorder
• Chromosome 2
• Albright hereditary osteodystrophy

See Also

• Chromosome disorders
• Genetic testing
• Intellectual disability
• Autism spectrum disorder

External links

• Medical encyclopedia article on 2q37 monosomy
• Wikipedia's article - 2q37 monosomy

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