17q12 microdeletion syndrome

17q12 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of chromosome 17. This deletion occurs at a location designated q12.

Causes

17q12 microdeletion syndrome is caused by a deletion of approximately 1.4 million base pairs on chromosome 17. This deletion includes at least 15 genes, some of which are thought to be critical for normal development. The deletion is usually not inherited but occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.

Symptoms

The symptoms of 17q12 microdeletion syndrome can vary widely, even among individuals in the same family. Common symptoms include intellectual disability, developmental delay, and distinctive facial features. Many affected individuals also have autism spectrum disorder or other behavioral problems. Some people with this condition have abnormalities of the kidneys or urinary tract, and a small number develop a form of diabetes known as maturity-onset diabetes of the young (MODY).

Diagnosis

Diagnosis of 17q12 microdeletion syndrome is based on a clinical examination and confirmed by genetic testing. This testing can identify the deletion of genes on chromosome 17 that causes the syndrome.

Treatment

There is no cure for 17q12 microdeletion syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms of each patient. This may include educational support for intellectual disability, behavioral therapy for autism spectrum disorder, and medical management for kidney abnormalities or diabetes.

Prognosis

The prognosis for individuals with 17q12 microdeletion syndrome varies depending on the severity of symptoms. With appropriate support and management, many individuals with this condition can lead fulfilling lives.

See also

• Chromosome 17
• Intellectual disability
• Autism spectrum disorder
• Maturity-onset diabetes of the young

NIH genetic and rare disease info

• NIH info on 17q12 microdeletion syndrome

17q12 microdeletion syndrome is a rare disease.

17q12 microdeletion syndrome Resources
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