|Classification and external resources|
Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, is a rare contiguous gene syndrome that results from the microdeletion of section 11.2 on the short arm of chromosome 11 (11p11.2). The syndrome has its name from Dr. Lorraine (Lori) Potocki and Dr. Lisa Shaffer who discovered the deletion on the 11th chromosome and studied the impacts.
The deletion of this combination of genes results in several distinctive congenital features, but is not known to affect any vital organs. The disorder is associated with an enlarged parietal foramina (openings in the two bones that form the top and sides of the skull), benign bone tumours (exostosis), developmental delay, vision disorders and craniofacial abnormalities. It is classified as a rare disease.
PSS can be detected through array comparative genomic hybridization (aCGH).
- Online 'Mendelian Inheritance in Man' (OMIM) 601224
- "Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)". Department of Molecular and Human Genetics, Baylor College of Medicine. Rockville Pike, Bethesda MD, USA: National Center for Biotechnology Information. Retrieved 29 March 1996.
- "Potocki–Shaffer syndrome". OrphaNet. Paris, France: INSERM. March 2006. Retrieved 26 August 2009.
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