在"英语"词典里fragile-X syndrome}的意思

在英语中FRAGILE-X SYNDROME的发音

fragile-X syndrome

FRAGILE-X SYNDROME在英语中的意思是什么？

脆性X综合症

Fragile X syndrome

脆性X综合征，也称为马丁 - 贝尔综合症或埃斯卡兰特综合征，是一种遗传综合征，是孤独症和智力障碍遗传原因尤其是男孩中最广泛的单因素原因。 导致一系列智力障碍从轻度到重度，以及身体特征，如伸长的脸，大的或突出的耳朵，大睾丸，以及行为特征，如刻板运动和社会焦虑。 脆性X综合征与影响X染色体上的脆性X精神发育迟滞1基因的CGG三核苷酸重复的扩增相关，导致未能表达正常神经发育所需的脆弱X智力迟滞蛋白。 根据CGG重复的长度，等位基因可以被分类为正常，前体或全突变。 通过遗传测试确定脆性X综合征的确定诊断来确定CGG重复的数量。 也可以进行前置运营商的测试，以进行遗传咨询。

Fragile X syndrome, also known as Martin–Bell syndrome, or Escalante's syndrome, is a genetic syndrome that is the most widespread single-gene cause of autism and inherited cause of intellectual disability especially among boys. It results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and large testes, and behavioral characteristics such as stereotypic movements, and social anxiety. Fragile X syndrome is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein, which is required for normal neural development. Depending on the length of the CGG repeat, an allele may be classified as normal, a premutation, or full mutation. A definitive diagnosis of fragile X syndrome is made through genetic testing to determine the number of CGG repeats. Testing for premutation carriers can also be carried out to allow for genetic counseling.

在英语 词典里fragile-X syndrome的定义

词典中脆性X综合征的定义是一种以精神低度异常为特征的遗传性疾病：患病个体的X染色体在一定条件下易损坏。

FRAGILE-X SYNDROME的翻译

通过我们的英语多语言翻译器,找到fragile-X syndrome的25种语言翻译

该章节所呈现的将fragile-X syndrome由 英语向其他语言的翻译是通过自动统计翻译获得的；在英语中基本的翻译单位是单词«fragile-X syndrome»。

• 翻译者英语 - 中文: 脆性X综合征
• 翻译者英语 - 西班牙语: El síndrome del cromosoma X frágil
• 英语: fragile-X syndrome
• 翻译者英语 - 印地语: नाजुक एक्स सिंड्रोम
• 翻译者英语 - 阿拉伯语: متلازمة الهش -X
• 翻译者英语 - 俄语: хрупкая - X синдром
• 翻译者英语 - 葡萄牙语: A síndrome do X frágil
• 翻译者英语 - 孟加拉语: ভঙ্গুর-এক্স সিন্ড্রোম
• 翻译者英语 - 法语: syndrome de l´X fragile
• 翻译者英语 - 马来语: Sindrom rapuh-X
• 翻译者英语 - 德语: fragile - X-Syndrom
• 翻译者英语 - 日语: 脆い-X症候群
• 翻译者英语 - 韩语: 유약 X 증후군
• 翻译者英语 - 印尼爪哇语: Sindrom rapuh-X
• 翻译者英语 - 越南语: hội chứng mong manh -X
• 翻译者英语 - 泰米尔语: பலவீனமான- X நோய்க்குறி
• 翻译者英语 - 马拉地语: नाजूक- X सिंड्रोम
• 翻译者英语 - 土耳其语: Kırılgan-X sendromu
• 翻译者英语 - 意大利语: La sindrome X fragile
• 翻译者英语 - 波兰语: Zespół łamliwego chromosomu X
• 翻译者英语 - 乌克兰语: тендітна - X синдром
• 翻译者英语 - 罗马尼亚语: sindromul X-fragil
• 翻译者英语 - 希腊语: σύνδρομο εύθραυστου - X
• 翻译者英语 - 布尔语(南非荷兰语): broos -X -sindroom
• 翻译者英语 - 瑞典语: bräcklig -X -syndrom
• 翻译者英语 - 挪威语: skjør -X -syndrom

与 «FRAGILE-X SYNDROME»相关的英语书籍

在以下的参考文献中发现fragile-X syndrome的用法。与fragile-X syndrome相关的书籍以及同一来源的简短摘要提供其在 英语文献中的使用情境。

Fragile X Syndrome: Diagnosis, Treatment, and Research

"Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome... Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet

Randi Jenssen Hagerman, Paul J. Hagerman, 2002

Children with Fragile X Syndrome: A Parents' Guide

Provides parents of children with Fragile X syndrome, believed to be the genetic cause of mental retardation, with information on diagnosis, education, daily care, and related legal issues.

Jayne Dixon Weber, 2000

Educating Children with Fragile X Syndrome: A ...

This book provides invaluable information, support and guidance on educating a child with Fragile X, background on the origins of this syndrome, and what the implications are for such a child's teaching and learning.

Denise Dew-Hughes, 2003

Understanding Fragile X Syndrome: A Guide for Families and ...

This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and looking to find out more.

Isabel Fern?ndez Carvajal, David Aldridge, 2011

Modeling Fragile X Syndrome

This book offers a comprehensive overview on the molecular basis of fragile X syndrome.

Robert B. Denman, 2011

Behavior and development in fragile X syndrome

"Altogether, I feel this book provides a very useful reference book on the subject and would recommend its inclusion in any library for psychiatrists working in the field of learning disability. . .

Elisabeth M. Dykens, Robert M. Hodapp, James F. Leckman, 1994

Fragile X Syndrome: New Insights for the Healthcare ...

Fragile X Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Fragile X Syndrome in a compact format.

‎2012

Speech & Language Development & Intervention in Down ...

Spotlighting two highly prevalent genetically-caused developmental disabilities--Down syndrome and fragile X syndrome--this text clarifies the distinct speech and language issues associated with each disorder and helps readers conduct ...

Joanne Erwick Roberts, Robin S. Chapman, Steven F. Warren, 2008

Fragile X Syndrome: New Insights for the Healthcare ...

The editors have built Fragile X Syndrome: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Additional Research in this book to be deeper ...

‎2013

Spelling Love with an X: A Mother, a Son, and the Gene that ...

An English professor by training, Dunsford draws on classic poetry to explore her new identity as a genetically “flawed” individual and reflect on her life with J.P., a colorful young man with great verbal dexterity and a lovably cheeky ...

Clare Dunsford, 2007