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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Potocki–Shaffer syndrome ： ウィキペディア英語版 Potocki–Shaffer syndrome 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.〔 ==Diagnosis== PSS can be detected through array comparative genomic hybridization (aCGH). 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Potocki–Shaffer syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.