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Home > D. General pathology > Genetic and developmental anomalies > Chromosomal diseases > Regional duplications > dup(17)(p11.2p11.2)


Sunday 29 April 2007

The duplication 17p11.2 syndrome (Potocki-Lupski syndrome), associated with dup(17)(p11.2p11.2) is a recognized syndrome of multiple congenital anomalies and mental retardation.

It is the first predicted reciprocal microduplication syndrome described, the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microdeletion (del(17)(p11.2p11.2)).


- infantile hypotonia
- failure to thrive
- mental retardation
- autistic features
- sleep apnea
- structural cardiovascular anomalies


- Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr;80(4):633-49. PMID: 17357070