fragile x syndromes中文是什么意思

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《英文msh词典》Fragile X Syndromes
[入口词] Fragile X Syndromes
[主题词] Fragile X Syndrome
[英文释义] A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment,hyperactivity,SEIZURES,language delay,and enlargement of the ears,head,and testes. MENTAL RETARDATION occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes,Textbook of Child Neurology,5th ed,p226)

fragile x chromosome 脆x染色体; 脆Ｘ染色体; 脆染色体; 脆性x染色体
fragile x chromosome syndrome 脆性x染色体综合征
fragile x mental retardation 脆性x智力低下; 脆性x综合征
fragile x syndrome x染色体易裂症; x染色易裂症; 脆性x染色体综合征; 脆性x染色体综合症; 七、脆性x综合征; 染色体综合征
fragile x-associated mental retardation 脆性x连锁智力低下
fragile x site induced breaking point 脆性x断点
fragile adj. 1.脆的，易碎的。 2.脆弱的，虚弱的。 fragile health 虚弱的体质。 adv. -ly ,-ness n. ＝fragility.
acromelia syndromes 肢端综合征群
anxiety syndromes 八纲辩证
combination of syndromes 合病
concurrent syndromes 证候相兼
episodic syndromes 发作性综合征
exhaustion syndromes 疲劳症状群
galactorrhea syndromes 乳溢综合征
lymphoreticular syndromes 淋巴网状内皮细胞综合征
myelodysplastic syndromes 骨髓发育不良症候群; 骨髓发育不良综合征
premenstrual syndromes 月经前综合症
recognize syndromes 认识症候
syndromes and a century 恋爱症候群
syndromes with ichthyosis 第三节伴鱼鳞病的综合征
a fragile constitutin 虚弱的体质
a fragile economy 疲软的经济
a fragile plant 娇嫩的植物
be psychologically fragile 心理脆弱
case fragile 箱子脆弱

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例句与用法

The screnning and prenatal gene dignosis for fragile x syndrome using pfu dna
综合征的筛查和产前基因诊断
fragile x syndrome ( fxs ) is the most common form of inherited mental retardation after down syndrome . it affects approximately 1 in 4000 males and 1 in 8000 females in the general population
脆性x综合征(fragilexsyndrome，fxs)是导致遗传性智力低下的主要原因之一，发病率仅次于先天愚型，在男性中的发病率约为1/4000，在女性中发病率约为1/8000。
To detect the patients and carriers of the fragile x syndrome, various analytic methods could be used . one is cytogenetic diagnosis to observe the expression of the fragile site fraxa located at xq27.3
对脆x综合征的诊断，可以通过细胞遗传学方法观察分析x染色体相应脆性位点的表达情况，或是通过southern印迹杂交的方法直接分析cgg重复的扩增突变。
The absence of the fmr1 gene product, fragile x mental retardation protein ( fmrp ), is believed to be responsible for the typical physical and mental characteristics of the fragile x syndrome . alleles with between 43 and 200 cgg repeats are called permutation . they are generally unmethylated with normal transcript and protein level, but are extremely unstable during transmission to next generation
带有前突变(n=43200)的个体其fmr1基因通常不会甲基化，可以正常转录和翻译产生fmrp，故没有临床表型出现，但是，在向下一代传递的过程中却是非常不稳定的，会从前突变扩增成为全突变。

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Last modified time:Sun, 10 Aug 2025 00:29:56 GMT