Monosomy 14

Monosomy 14 is a rare chromosomal disorder where a person has only one copy of chromosome 14 instead of the usual two. This condition can lead to a variety of physical and mental abnormalities, including growth retardation, intellectual disability, and distinctive facial features.

Symptoms and Signs

People with Monosomy 14 may exhibit a range of symptoms and signs, including:

• Growth retardation: This is a common symptom of Monosomy 14. Affected individuals may be smaller than their peers and may not grow at the expected rate.
• Intellectual disability: Many people with Monosomy 14 have some degree of intellectual disability. This can range from mild to severe.
• Distinctive facial features: Individuals with Monosomy 14 often have distinctive facial features, such as a small head (microcephaly), a prominent forehead, wide-set eyes (hypertelorism), and a small lower jaw (micrognathia).

Causes

Monosomy 14 is caused by a deletion of genetic material from one of the two copies of chromosome 14. This deletion can occur in any of the cells that form the body.

Diagnosis

Diagnosis of Monosomy 14 is typically made through a combination of clinical examination and genetic testing. Genetic testing can confirm the presence of only one copy of chromosome 14.

Treatment

There is currently no cure for Monosomy 14. Treatment is symptomatic and supportive, and may include physical therapy, special education, and other interventions to help manage the symptoms of the condition.

See Also

• Chromosomal abnormalities
• Genetic disorders
• Intellectual disability
• Growth retardation

References

<references />

This article is a medical stub. You can help WikiMD by expanding it!
Most recent articles Ongoing trials	Wikipedia