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Potocki-Lupski syndrome synonyms

What other names are the Potocki-Lupski syndrome known by? Synonyms and other terms with which Potocki-Lupski syndrome is known.

Potocki-Lupski syndrome is also known as...

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:




  • Duplication 17p11.2 syndrome: This name reflects the genetic abnormality causing the condition, where a segment of chromosome 17 is duplicated.

  • 17p11.2 duplication syndrome: Similar to the previous synonym, this name highlights the specific chromosomal region involved in the duplication.

  • Trisomy 17p11.2: Trisomy refers to the presence of an extra copy of a chromosome or chromosomal segment. In Potocki-Lupski syndrome, there is a trisomy of the 17p11.2 region.

  • 17p11.2 microduplication syndrome: This synonym emphasizes that the duplication is a small segment of chromosome 17p11.2.

  • PTLS: An acronym derived from the initials of Potocki-Lupski syndrome, PTLS is commonly used as a shorthand term.



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.


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