2q37 monosomy

2q37 Monosomy is a rare chromosomal disorder that can affect multiple parts of the body. This condition is characterized by a variety of symptoms, including developmental delay, intellectual disability, and physical abnormalities.

Symptoms and Signs

People with 2q37 Monosomy often have developmental delay and intellectual disability. The severity of these problems varies widely among affected individuals. Some people with this condition have mild delays in development and learning, while others have severe intellectual disability and may never learn to speak.

Physical abnormalities are also common in 2q37 Monosomy. These can include short stature, obesity, and a variety of distinctive facial features. Some people with this condition also have skeletal abnormalities, such as brachydactyly (short fingers and toes) or scoliosis (a sideways curvature of the spine).

Causes

2q37 Monosomy is caused by a deletion of genetic material from the long (q) arm of chromosome 2. The size of the deletion varies among affected individuals, and larger deletions tend to be associated with more severe symptoms.

Diagnosis

Diagnosis of 2q37 Monosomy is based on the presence of characteristic signs and symptoms, and can be confirmed by genetic testing. This testing can identify the specific deletion on chromosome 2 that causes the condition.

Treatment

There is currently no cure for 2q37 Monosomy, and treatment is focused on managing the symptoms. This can include physical therapy for skeletal abnormalities, special education services for developmental delay and intellectual disability, and medical management for any associated health problems.

See Also

• Chromosomal disorders
• Developmental delay
• Intellectual disability
• Genetic testing

2q37 monosomy Resources
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