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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 Papillorenal syndrome ： ウィキペディア英語版 Papillorenal syndrome Papillorenal syndrome, also called renal-coloboma syndrome or isolated renal hypoplasia, is an autosomal dominant genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve. ==Genetic background== Papillorenal syndrome is an autosomal dominant disorder that results from a mutation of one copy of the ''Pax2'' gene, located on chromosome 10q24.3-q25.1.〔 The gene is important in the development of both the eye and the kidney. Autosomal dominant inheritance indicates that the gene responsible for the disorder is located on an autosome (chromosome 10 is an autosome), and only one defective copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. 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「Papillorenal 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.