Proximal 18q-

Proximal 18q- is a rare chromosomal disorder characterized by the deletion of the proximal segment of the long arm of chromosome 18. This condition is also known as 18q deletion syndrome.

Symptoms and Signs[edit | edit source]

The symptoms of Proximal 18q- vary widely among affected individuals. Common symptoms include intellectual disability, growth retardation, and distinctive facial features. Other symptoms may include hearing loss, heart defects, and abnormalities of the kidney and urinary system.

Causes[edit | edit source]

Proximal 18q- is caused by a deletion of genetic material from the long arm of chromosome 18. The size of the deletion varies among affected individuals. The deletion occurs as a random event during the formation of reproductive cells or in early embryonic development.

Diagnosis[edit | edit source]

Diagnosis of Proximal 18q- is typically made through genetic testing, which can identify the chromosomal deletion. This can be done through methods such as karyotyping or fluorescence in situ hybridization (FISH).

Treatment[edit | edit source]

There is currently no cure for Proximal 18q-. Treatment is symptomatic and supportive, and may include physical, occupational, and speech therapy, as well as educational services and social support.

Prognosis[edit | edit source]

The prognosis for individuals with Proximal 18q- varies depending on the size of the chromosomal deletion and the specific symptoms present. Some individuals may have mild symptoms and live a normal lifespan, while others may have severe symptoms and associated health problems.