e/Potocki-Lupski syndrome

Information
has gloss	eng: 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.
lexicalization	eng: Potocki-Lupski syndrome
instance of	(noun) a defect that is present at birth congenital defect, congenital anomaly, congenital abnormality, congenital disorder, birth defect