2q37 deletion syndrome

2q37 deletion syndrome

2q37 deletion syndrome (pronounced "two-q-thirty-seven deletion syndrome"), also known as brachydactyly-mental retardation syndrome (BDMR), is a rare genetic disorder caused by deletions or mutations on the long arm (q) of chromosome 2 at the q37 location.

Etymology

The name "2q37 deletion syndrome" is derived from the specific location of the genetic mutation or deletion. The "2" refers to chromosome 2, "q" refers to the long arm of the chromosome, and "37" refers to the band location on the chromosome where the deletion or mutation occurs.

Symptoms

Individuals with 2q37 deletion syndrome may exhibit a variety of symptoms, including intellectual disability, growth retardation, obesity, autism spectrum disorder, and distinctive facial features. Additionally, many affected individuals have brachydactyly, or shortening of the fingers and toes.

Diagnosis

Diagnosis of 2q37 deletion syndrome is typically made through genetic testing, which can identify the deletion or mutation on chromosome 2. This is often done through a type of test called a chromosomal microarray.

Treatment

There is currently no cure for 2q37 deletion syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, speech therapy, and educational support. Some individuals may also require medical treatment for associated health issues, such as heart defects or seizures.

Prognosis

The prognosis for individuals with 2q37 deletion syndrome varies widely, depending on the severity of symptoms and the presence of associated health issues. With appropriate support and treatment, many individuals with this syndrome can lead fulfilling lives.

See also

• Genetic disorder
• Chromosome deletion
• Brachydactyly
• Intellectual disability

External links

• Medical encyclopedia article on 2q37 deletion syndrome
• Wikipedia's article - 2q37 deletion syndrome

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