1q21.1 deletion syndrome

1q21.1 Deletion Syndrome

1q21.1 deletion syndrome (pronounced "one-q-two-one-point-one deletion syndrome") is a rare genetic disorder that results from a chromosomal abnormality.

Etymology

The name of the syndrome is derived from its genetic cause. The "1q21.1" refers to the specific location on chromosome 1 where a small piece is missing, or deleted. The term "deletion" refers to the loss of genetic material. "Syndrome" is a term used to describe a group of symptoms that consistently occur together.

Definition

1q21.1 deletion syndrome is characterized by mild to moderate intellectual disability, distinctive facial features, and a variety of physical and psychiatric symptoms. The severity and range of symptoms can vary widely among affected individuals.

Symptoms

Symptoms of 1q21.1 deletion syndrome can include microcephaly (small head size), hypotonia (low muscle tone), developmental delay, and autism spectrum disorder. Some individuals may also have heart defects, schizophrenia, or other psychiatric conditions.

Genetics

1q21.1 deletion syndrome is caused by a deletion of genetic material from a specific region of chromosome 1, known as the 1q21.1 region. This deletion occurs randomly and is usually not inherited from a parent.

Diagnosis

Diagnosis of 1q21.1 deletion syndrome is typically made through genetic testing, which can identify the characteristic deletion in the 1q21.1 region of chromosome 1.

Treatment

There is currently no cure for 1q21.1 deletion syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support.

Related Terms

External links

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

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1q21.1 deletion syndrome