Tags: Disease.

Potocki–Lupski syndrome (PTLS) also known as dup(17)p11.2p11.2 syndrome trisomy 17p11.2 or duplication 17p11.2 syndrome is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). The duplication was first described as a case study in 1996. In 2000 the first study of the disease was released and in 2007 enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description.

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