Potocki–Lupski syndrome
Medical condition / From Wikipedia, the free encyclopedia
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).[1] The duplication was first described as a case study in 1996.[2] In 2000, the first study of the disease was released,[3] and in 2007, enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description.[1] PTLS is named for two researchers involved in the latter phases, Drs. Lorraine Potocki and James R. Lupski of Baylor College of Medicine.[1][4]
Potocki–Lupski syndrome | |
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Other names | 17p11.2 microduplication syndrome ,Trisomy 17p11.2 |
PTLS was the first predicted reciprocal of a homologous recombination (microdeletion or microduplication) where both reciprocal recombinations result in a contiguous gene syndrome.[1] Its reciprocal disease is Smith–Magenis syndrome (SMS), in which the chromosome portion duplicated in PTLS is deleted altogether.[3]
Potocki–Lupski syndrome is considered a rare disease,[5][6] predicted to appear in at least 1 in 20,000 humans.[7]
Symptoms of the syndrome include intellectual disability, autism,[1] and other disorders unrelated to the listed symptoms.