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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 Ablepharon macrostomia syndrome ： ウィキペディア英語版 Ablepharon macrostomia syndrome Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder characterized by malformations of the skull, skin, fingers and genitals. Affected individuals may also have malformations of the nipples and abdominal wall. Younger individuals might experience language difficulties, and in some instances mental retardation is known.〔"(Ablepharon macrostomia syndrome )". Retrieved 2009-11-24.〕 ==Genetics== It has been suggested that AMS is inherited in an autosomal recessive manner.〔〔(NORD - National Organization for Rare Disorders, Inc )〕 This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of 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「Ablepharon macrostomia 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.