Potocki–Shaffer syndrome

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Potocki–Shaffer syndrome
Classification and external resources
OMIM 601224
DiseasesDB 33344

Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome,[1] 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.[2]

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.[2] It is classified as a rare disease.[2][3]

Diagnosis[edit]

PSS can be detected through array comparative genomic hybridization (aCGH).

See also[edit]

References[edit]

External links[edit]