1q21.1 duplication syndrome

1q21.1 duplication syndrome is a rare genetic disorder that affects various parts of the body. The syndrome is characterized by a wide range of potential symptoms and physical features. These may include mild to moderate intellectual disability, delayed development, distinctive facial features, and other physical abnormalities.

Pronunciation

1q21.1 duplication syndrome is pronounced as "one q twenty-one point one duplication syndrome".

Etymology

The name "1q21.1 duplication syndrome" is derived from the specific location of the genetic mutation that causes the disorder. The "1q21.1" refers to the location on the first chromosome (1), on the long arm (q), in region 2, band 1, sub-band 1. "Duplication" refers to the fact that there is an extra copy (duplication) of this part of the chromosome in each cell.

Symptoms and Features

Individuals with 1q21.1 duplication syndrome may exhibit a wide range of symptoms and physical features. These can include:

• Intellectual disability
• Delayed development
• Microcephaly (small head size)
• Hypotonia (low muscle tone)
• Autism spectrum disorder
• Schizophrenia
• Congenital heart defects
• Abnormalities of the fingers or toes

Related Terms

• Genetic disorder
• Chromosome
• Duplication (genetics)
• Microduplication
• Genetic testing
• Genetic counseling

Diagnosis and Treatment

Diagnosis of 1q21.1 duplication syndrome is typically made through genetic testing, which can identify the specific chromosomal duplication. Treatment is symptomatic and supportive, focusing on managing individual symptoms and improving quality of life. This can include physical therapy, educational support, and other interventions as needed.

See Also

• 1q21.1 deletion syndrome
• Chromosome 1 (human)
• Genetic disorders
• Rare diseases

External links

• Medical encyclopedia article on 1q21.1 duplication syndrome
• Wikipedia's article - 1q21.1 duplication syndrome

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