Potocki–Lupski syndrome

Potocki–Lupski syndrome (PTLS) is a rare genetic disorder characterized by the duplication of a small segment of chromosome 17p11.2. This condition was first described by Dr. Lorraine Potocki and Dr. James R. Lupski in 2000. PTLS is associated with a variety of clinical features, including developmental delay, intellectual disability, and distinctive facial features.

Clinical Features

Individuals with Potocki–Lupski syndrome often exhibit a range of clinical features, which can vary in severity. Common characteristics include:

• Developmental delay and intellectual disability
• Hypotonia (low muscle tone)
• Failure to thrive in infancy
• Autism spectrum disorder or autistic-like behaviors
• Sleep apnea
• Congenital heart defects
• Distinctive facial features such as a high forehead, down-slanting palpebral fissures, and a small mouth

Genetics

Potocki–Lupski syndrome is caused by a duplication of a segment of chromosome 17p11.2. This duplication includes the RAI1 gene, which is believed to play a significant role in the development of the syndrome. The duplication can occur de novo (new mutation) or be inherited from a parent with a balanced translocation.

Diagnosis

Diagnosis of PTLS is typically made through genetic testing, such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH). These tests can identify the duplication of the 17p11.2 region.

Management

There is no cure for Potocki–Lupski syndrome, and treatment is focused on managing the symptoms and improving the quality of life for affected individuals. Management strategies may include:

• Early intervention programs for developmental delays
• Special education services
• Speech, occupational, and physical therapy
• Treatment for sleep apnea, such as continuous positive airway pressure (CPAP) therapy
• Regular monitoring and treatment of congenital heart defects

Epidemiology

Potocki–Lupski syndrome is a rare condition, with an estimated prevalence of 1 in 25,000 to 1 in 50,000 live births. Due to its rarity, it is often underdiagnosed or misdiagnosed.

See Also

• Smith–Magenis syndrome
• Chromosome 17
• Genetic disorder
• Developmental delay
• Intellectual disability

External Links

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