拍·达马查育拒绝自首，声称自己患有糖尿病和特纳综合征，后者是一种和染色体有关的失调。
Phra Dhammachayo has refused to turn himself in, asserting that he suffers from diabetes and Turner syndrome, a chromosomal disorder.
孕11 - 13 +6周胎儿颈项透明层(NT)厚度已经成为早孕期筛查唐氏综合征的重要指标。
In 11-13 + 6 weeks, fetal nuchal translucency (nt) thickness has become an important index of down's syndrome of early pregnancy screening.
当假阳性率为5%时，单项母体血清PAPP-A、单项孕妇年龄、母体血清PAPP-A联合孕妇年龄及丈夫年龄筛查唐氏综合征胎儿的灵敏度分别为60%、50%、80%。
Maternal PAPP-A, maternal PAPP-A combined with maternal age and paternal age, and maternal age would respectively detect 60%, 80% and 50% of Down's syndrome fetuses with a false positive rate of 5%.
对糖尿病患者常规进行库欣氏综合征筛查是否有价值？
Is There Value in Routine Screening for Cushing's Syndrome in Patients with Diabetes?
结论培智学校学生家长对脆性X综合征的了解很少，但对此病的高危筛查接受性高。
Conclusion the parents with mentally retarded students knew little about the fragile X syndrome, but whose acceptability of screening was high.
结论孕妇血清风险评估结合彩超诊断对孕早、中期唐氏综合征筛查有重要的意义。
Conclusion Serum marks with CDFI may play an important role in screening for Down's syndrome at early and mid pregnancy.
目的：(1)用孕妇血清标记物进行唐氏综合征产前筛查，探索适合云南省实际情况的产前筛查技术体系。
Objective: (1) To explore a technological system suitable for the Down 's syndrome prenatal screening in Yunnan province, using maternal serum markers.
年龄小于35岁的孕妇可通过三联检查来筛查唐氏综合征。
In women under age 35 years, screening for fetal Down syndrome is accomplished with a triple screen.
目的探讨筛查胎儿唐氏综合征的临床意义。
Objective Screening for fetal Down syndrome clinical significance.
三联检查筛查唐氏综合征的阳性率达60%。
阿颈背扫描是扫描超声产前筛查(超声波)，以帮助确定风险较高的唐氏综合征胎儿中，特别是对老年妇女有较高的风险，谁这样怀孕。
A nuchal scan is a sonographic prenatal screening scan (ultrasound) to help identify higher risks of Down syndrome in a fetus, particularly for older women who have higher risks of such pregnancies.
他们也计算了需要通过筛查来预防淋巴瘤发生的无乳糜泻症状的唐氏综合征儿童的数量。
They also calculated the number of asymptomatic children with Down syndrome who needed to be screened to prevent a single case of lymphoma.
目的调查两种孕中期唐氏综合征产前筛查方法的一致性。
Objective:To investigate the consistency between two maternal serum screening for Down′s syndrome in the second trimester pregnancy.
方法采用PCR - SSCP筛查与DNA直接测序的方法对12例okc进行PTCH基因突变的检测，其中2例为痣样基底细胞癌综合征(NBCCS)相关okc,10例为散发okc。
Methods PCRSSCP and DNA sequencing were used to analyze the PTCH gene mutations in 12 OKCs, including 10 sporadic and 2 nevoid basal cell carcinoma syndrome (NBCCS) associated OKC.
摘要 ：目的对4例汉族马凡综合征（MFS）患者的原纤蛋白-1（FBN1）基因进行突变筛查，探讨MFS与FBN1基因突变的关系。
Abstract : Objective To detect FBN1 mutation by screening FBN1 gene from 4 patients with Marfan syndrome(MFS)to investigate the correlation between the gene mutation and the MFS.
运用PCR -序列分析胶银染法快速、直接、简便、实用，适合脆性X综合征的大规模群体筛查。
The PCR-Sequence gel silver staining was more rapid, immediate, simple and economy, which suits to the colony screening fragile X syndrome on a large scale.
运用PCR -序列分析胶银染法快速、直接、简便、实用，适合脆性X综合征的大规模群体筛查。
The PCR-Sequence gel silver staining was more rapid, immediate, simple and economy, which suits to the colony screening fragile X syndrome on a large scale.
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