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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 McKusick–Kaufman syndrome ： ウィキペディア英語版 McKusick–Kaufman syndrome McKusick–Kaufman syndrome is a genetic condition associated with MKKS. The condition is named for Dr. Robert L. Kaufman and Victor McKusick. It is sometimes known by the abbreviation MKS.〔Abbreviation cited at (Genetics Home Reference ).〕 In infancy it can be difficult to distinguish between MKS and the related Bardet–Biedl syndrome, as the more severe symptoms of the latter condition rarely materialise before adulthood. == Genetics == MKS is inherited in an autosomal recessive dominance pattern.〔Slavotinek AM, ("McKusick-Kaufam Syndrome" ), ''GeneReviews'', 1993-2015〕 Both parents of the affected must be heterozygous carriers of the pathogenic variant. Heterozygous carriers for MKS show no symptoms of the disorder, nor can they develop the disorder. Each child of these carriers has a 1/4 chance of being affected by MKS, a 1/2 chance of being carriers themselves, and a 1/4 chance of being unaffected and a non carrier. 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「McKusick–Kaufman 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.