CATCH 22 syndrome

CATCH 22 syndrome, also known as 22q11.2 deletion syndrome, is a disorder caused by a small missing piece of the 22nd chromosome. This tiny deletion leads to the manifestation of a range of health and developmental issues in individuals affected by the syndrome.

Overview

The term CATCH 22 is an acronym that stands for Cardiac defects, Abnormal facial features, Thymus gland dysfunction, Cleft palate, and Hypocalcemia, all of which are associated with the 22nd chromosome. The number 22 in CATCH 22 also refers to the 22nd chromosome where the deletion occurs.

Symptoms

The symptoms of CATCH 22 syndrome can vary widely, even among members of the same family. Some individuals may have many features of the disorder, while others may have only a few. The most common symptoms include heart defects, immune system problems, cleft palate, distinctive facial features, and low levels of calcium in the blood (hypocalcemia).

Causes

CATCH 22 syndrome is caused by a deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. This deletion occurs very early in the development of an embryo and it is unknown why the deletion happens.

Diagnosis

Diagnosis of CATCH 22 syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying a deletion in the long arm of chromosome 22.

Treatment

Treatment for CATCH 22 syndrome is focused on managing the symptoms and generally involves a team of specialists. This may include cardiologists, immunologists, endocrinologists, and others depending on the individual's specific health problems.

See also

• Chromosome 22
• Genetic disorders
• Cardiac defects
• Immune system
• Cleft palate
• Hypocalcemia

CATCH 22 syndrome Resources
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