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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 Smith Martin Dodd syndrome ： ウィキペディア英語版 Smith Martin Dodd syndrome Smith Martin Dodd syndrome is a very rare genetic disorder first described by Smith et al. in 1994. It is characterized by small eyes, a diaphragmatic hernia, and Tetralogy of Fallot, a congenital heart defect.〔(【引用サイトリンク】 title=Smith Martin Dodd Syndrome )〕〔(【引用サイトリンク】 title=DIAPHRAGMATIC HERNIA, CONGENITAL )〕 The only known case is of a 9-year-old boy with several congenital anomalies including a diaphragmatic hernia, microphthalmia, and Tetralogy of Fallot. It was found that the boy had a reciprocal translocation t(1;15)(q41;q21.2).〔(【引用サイトリンク】 title=FRYNS SYNDROME; FRNS )〕 A congenital diaphragmatic hernia is consistent with chromosome 1q41-q42 deletion syndrome,〔(【引用サイトリンク】 title=CHROMOSOME 1q41-q42 DELETION SYNDROME )〕 and the report by Smith et al. suggested that genes involved in the translocation may be important for the development of morphological characteristics, especially those of the eye or heart.〔 ==References== 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「Smith Martin Dodd 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.