Potocki-Lupski syndrome, also known as Duplication 17p11.2 syndrome, is a rare genetic disorder characterized by the duplication of a specific region on chromosome 17. This condition was first described by Drs. Paweł Potocki and James R. Lupski in 1996, hence the name.
Synonyms
Potocki-Lupski syndrome is often referred to by several synonyms, including:
Potocki-Lupski syndrome is associated with a wide range of symptoms, including intellectual disability, developmental delays, autism spectrum disorder, hypotonia (low muscle tone), and distinctive facial features. Individuals with this syndrome may also experience cardiovascular abnormalities, sleep disturbances, and gastrointestinal issues.
It is important to note that Potocki-Lupski syndrome is a genetic condition and is not caused by any external factors or parental actions. The duplication of chromosome 17p11.2 occurs spontaneously during the formation of reproductive cells or early fetal development.
Diagnosis of Potocki-Lupski syndrome is typically confirmed through genetic testing, such as chromosomal microarray analysis. Although there is no cure for this syndrome, management focuses on addressing individual symptoms and providing supportive care.
By raising awareness and understanding of Potocki-Lupski syndrome, we can promote early diagnosis, appropriate interventions, and support for individuals and families affected by this rare genetic disorder.