1p36 deletion syndrome

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1p36 Deletion Syndrome is a chromosome disorder that typically results in severe intellectual disability. Most people with 1p36 deletion syndrome have weak muscle tone (hypotonia) and a small head size (microcephaly).

Signs and Symptoms[edit | edit source]

Most individuals with 1p36 Deletion Syndrome have intellectual disabilities and delayed development. Other common features include a small head size, unusually shaped ears, a short neck, and distinctive facial features such as a flat nasal bridge, a wide, square-shaped face, deep-set eyes, a thin upper lip, and a pointed chin.

Causes[edit | edit source]

1p36 Deletion Syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. This deletion occurs near the end of the chromosome at a location designated p36.

Diagnosis[edit | edit source]

Diagnosis of 1p36 Deletion Syndrome is based on clinical features and confirmed by genetic testing. This testing can identify a deletion in the 1p36 region of chromosome 1.

Treatment[edit | edit source]

Treatment of 1p36 Deletion Syndrome is symptomatic and supportive. It may include physical, occupational, and speech therapy, and educational services.

Prognosis[edit | edit source]

The prognosis for individuals with 1p36 Deletion Syndrome varies depending on the size and location of the deletion and the presence and severity of health problems.

Epidemiology[edit | edit source]

1p36 Deletion Syndrome is estimated to occur in 1 in 5,000 to 10,000 births.

See Also[edit | edit source]

References[edit | edit source]

External Links[edit | edit source]

1p36 deletion syndrome Resources
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Contributors: Prab R. Tumpati, MD