翻訳と辞書 Words near each other ・ Supraspinatous fossa ・ Supraspinatus muscle ・ Supraspinous fascia ・ Supraspinous ligament ・ Suprasternal notch ・ Supratentorial region ・ Supratik Chakraborty ・ Supratisthita Varman ・ Supratisthitacaritra ・ Supratrochlear artery ・ Supratrochlear foramen ・ Supratrochlear lymph nodes ・ Supratrochlear nerve ・ Suprava Samal ・ Supravaginal portion of cervix ・ Supravalvar aortic stenosis ・ Supravee Miprathang ・ Supraventricular extrasystole ・ Supraventricular tachycardia ・ Supravesical fossa ・ Supravital staining ・ Supraśl ・ Supraśl (river) ・ Supraśl Orthodox Monastery ・ Supraślanka Supraśl ・ SUPRE (suicide) ・ Supreeme ・ Suprema (disambiguation) ・ Suprema Inc. ・ Supremacism Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Supravalvar aortic stenosis ： ウィキペディア英語版 Supravalvar aortic stenosis Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve. It is often associated with other cardiovascular anomalies and is one of the characteristic findings of Williams syndrome. The diagnosis can be made by echocardiography or MRI. ==Genetics== Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23.〔Tassabehji, May, and Zsolt Urban. "Congenital Heart Disease." Congenital Heart Disease. Humana Press, 2006. 129-156.〕 Fluorescent in situ hybridisation techniques have revealed that 96% of patients with Williams syndrome, where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene.〔Lowery, Mary C., et al. "Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients." American journal of human genetics 57.1 (1995): 49.〕 Further studies have shown that patients with less extensive deletions featuring the Elastin gene also tend to develop supravalvular aortic stenosis 〔 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「Supravalvar aortic stenosis」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.