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trisomy syndrome
相关语句
  三体综合征
     Rapid Diagnosis of 21 Trisomy Syndrome by SYBR Green I Homologous Genes Quantitative Polymerase Chain Reaction (HGQ-PCR)
     SYBR Green I 同源基因定量PCR快速诊断21-三体综合征
短句来源
     It concentrates some aspects on the Alagille syndrome,CHARGE syndromes,Holt-Oram syndrome,Noonan syndrome,Turner syndrome,VACTERL syndromes,Williams syndrome,22q11 deletion syndrome and 13,18,21 trisomy syndrome related with genetical CHD,including their epidemiology,clinical phenotype,heredity aetiology and clinical diagnosis,so as to provide some clinical information for prenatal and neonatal diagnosis,conjecturing the prognosis and risk of recurrence.
     对Alagille综合征、CHARGE联合征、Holt-Oram综合征、Noonan综合征、Turner综合征、VACTERL联合征、Williams综合征、22q11缺失综合征和13、18、21三体综合征与CHD相关流行病学、临床表型、遗传病因和诊断及其再发风险进行了综述,为产前和产后临床诊断,了解疾病预后和再发概率提供资料.
短句来源
     Epidemiological investigation and analysis on the risk factors of 108 cases with 21 trisomy syndrome
     108例21三体综合征患儿危险因素分析
短句来源
     Rapid diagnosis of 21 trisomy syndrome by fluorescence quantitative polymerase chain reaction
     荧光定量PCR快速诊断21三体综合征
短句来源
     Cerebral CT Manifestations of 21 Trisomy Syndrome in Children
     小儿21三体综合征的脑部CT表现
短句来源
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  “trisomy syndrome”译为未确定词的双语例句
     Preclinical Study of Preimplantation Genetic Diagnosis of 21 Trisomy Syndrome
     21三体综合症植入前诊断的临床前运用研究
短句来源
     Conclusions Coexamination of serum AFP and F-βHCG as method to screen fetal congenital defect,especially in fetal trisomy syndrome and cortex imcomplete malformation is feasible.
     结论 孕中期血清AFP、F -βHCG二项血清生化指标联合检测 ,作为筛查胎儿先天缺陷 ,尤其是胎儿染色体三体征及表皮缺陷、畸形有效可行。
短句来源
     [Methods] A retrospective study on prenatal trisomy syndrome and malformation from 1990 to 2000 was carried out.
     方法 对上海市杨浦区1990年7月~2000年6月围产期21-三体和大畸形的病例资料进行回顾性分析。
短句来源
     Methods Fluorescence in situ hybridization(FISH) technique combined with chromosome banding was performed to determine the karyotype of two patients with typical clinical features of partial 13q trisomy syndrome, then their manifestations were compared with those of the literatures published previously.
     方法 应用染色体显带技术结合荧光原位杂交确诊两个具有 13q部份三体典型临床症状病例的核型 ,并比较他们的临床表型与已报道病例的异同。
短句来源
     Conclusion: Coexamination of serum AFP and F -βHCG as method to screen fetal congenital defect, especially in fetal trisomy syndrome and neuratube defect is feasible.
     结论 孕中期血清AFP、F-βHCG二项血清生化指标联合检测,作为筛查胎儿先天缺陷,尤其是胎儿染色体三体、神经管畸形有效可行。
短句来源
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  相似匹配句对
     The Partial Trisomy 9 Syndrome
     9号染色体部分三体综合征
短句来源
     SYNDROME
     Noonan氏综合征(附2例报告)
短句来源
     Ultrasound Screening for the Prenatal Diagnosis of the Trisomy-21 Syndrome
     产前21-三体综合征的B超筛查
短句来源
     Olmsted syndrome
     Olmsted综合征国内首报
短句来源
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  trisomy syndrome
Distal 14q trisomy syndrome in two siblings: Further delineation of its phenotype
      
Clinical features of the present case demonstrated many characteristics common to those of the reported cases of partial 2p trisomy syndrome in foreign countries.
      
Partial 18 trisomy syndrome resulting from paternal 6/18 reciprocal translocation
      
Her clinical feature fullfilled almost all criteria of the 18 trisomy syndrome reported.
      
The birth of an infant who showed the classical features of the D1 trisomy syndrome is reported, reference being made to the relevant literature.
      
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This paper did a cytogenetics study on a baby patient of 6p partial trisomy syndrome,whose mother is balanced translocation carrier with the kaeyotype 46,XX,1,+der(1)t(1;6)(1pter→1944 6p22.2 →6pter)mat.The results were comparatirely analysed with the case of the same type.Furtherly,combining the clinical genetic counselling,the authors held a discussion.The conclusions are as follows:the longer the translocation slice of direct family carrier is,the lower dangerous the confined baby patient;the shorter...

This paper did a cytogenetics study on a baby patient of 6p partial trisomy syndrome,whose mother is balanced translocation carrier with the kaeyotype 46,XX,1,+der(1)t(1;6)(1pter→1944 6p22.2 →6pter)mat.The results were comparatirely analysed with the case of the same type.Furtherly,combining the clinical genetic counselling,the authors held a discussion.The conclusions are as follows:the longer the translocation slice of direct family carrier is,the lower dangerous the confined baby patient;the shorter the translocation slice is,the higher dangerous the confined baby patient;it's only by combining theoretical caculation with the correction of family or documentary information that descendent recurrence risk of balanced translocation carrier can be inferred.

本文通过对1例源自平衡易位携带者母亲、核型为46,XX,-1,+der(1),t(1;6)(1pter→lq44::6p22.2→6pter)mat的6p部分三体综合征患儿家系进行细胞遗传学研究,并与同类病例比较分析,结合遗传咨询门诊工作的体会进行讨论,提出亲代携带者的易位片段愈长,娩出患儿的风险愈小;易位片段愈短,娩出患儿的风险愈大;认为理论推算结合家系资料或文献资料的修正才能推论出平衡易位携带者的后代复发风险。

Objective: To improve the understanding and diagnostic ability of the brain changes in 21 trisomy syndrome.Materials and Methods:Cerebral CT findings in 23 cases with 21 trisomy syndrome, proved by cytogenetics, were retrospectively analyzed.Results:CT findings were as follows: (1) spotty or small round calcifications, mainly seen in basal ganglia area; (2) dilated sylvian fissure and subarachnoid cavity in frontal and parietal lobes; (3) underdevelopment of cerebellum.Conclusion: Cerebral CT findings...

Objective: To improve the understanding and diagnostic ability of the brain changes in 21 trisomy syndrome.Materials and Methods:Cerebral CT findings in 23 cases with 21 trisomy syndrome, proved by cytogenetics, were retrospectively analyzed.Results:CT findings were as follows: (1) spotty or small round calcifications, mainly seen in basal ganglia area; (2) dilated sylvian fissure and subarachnoid cavity in frontal and parietal lobes; (3) underdevelopment of cerebellum.Conclusion: Cerebral CT findings of 21 trisomy are characteristic, however, cytogenous examination should be conducted in order to confirm the diagnosis.

目的:提高对小儿21三体综合征脑部CT表现的认识和诊断。材料与方法:回顾性分析23例经细胞遗传学检查证实的21三体综合征的脑部CT表现。结果:本病的CT特征为:(1)脑内钙化,多见于基底节区,呈点状或小圆形;(2)侧裂、额顶区蛛网膜下腔增宽;(3)小脑发育不良。结论:本病CT表现具有一定的特征性,但其CT诊断须结合细胞遗传学检查确定。

Objective To investigate the clinical characteristics of 205 microsomia children whose mean stature is lower than that of the same age and same sex 2SD or who is under the third percentage . Methods Uniform investigation table was adopted for diseased history , physical examination and all kinds of laboratory tests. Results Among the 205 cases of the microsomia children , 75 of them (36. 6 %) were pituitary dwarfism . They are stunt remarkablely in stature and bone age,64. 0 % of whom had breech presentation,cross...

Objective To investigate the clinical characteristics of 205 microsomia children whose mean stature is lower than that of the same age and same sex 2SD or who is under the third percentage . Methods Uniform investigation table was adopted for diseased history , physical examination and all kinds of laboratory tests. Results Among the 205 cases of the microsomia children , 75 of them (36. 6 %) were pituitary dwarfism . They are stunt remarkablely in stature and bone age,64. 0 % of whom had breech presentation,cross birth , dystocia or asphyxia history. The treamental effectiveness by r-hGH was obviously. The number of the non-pituitary dwarfism children was 91 cases (44.4 %) . Among them, 70 cases (76.9 %) had the symptom of hypothyro-idism , constitutional developing delay and atelencephalia . The bone age of the hypothyroidism children was lower than that of the no-hypothyroidism one's. The treatment with the substitution of thyroxine had a good result. The number of the children with inherited disease was 39 case (19.0 %). The bone age was normal. Among them, 28 cases (71.8 %) were 21-trisomy syndrome children, hypophre associated with the 21-trisomy syndrome was more serious than that related to other kind of inherited diseases. Conclusion The pituitary dwarfism , no-pituitary dwarfism and inherited diseases are the common types in the microsomia children . The measure to improve the situation is to qualify the circumnatal period j avoid the opportunity of breech presentation , dystocia and asphgxia ; perform the pre-natal check-up.

目的 对205例身高低于同龄及同性别正常儿童均值减2个标准差或第三百分位数以下儿童进行临床研究。方法 采用统一调查表进行病史询问、体格检查、各项辅助检查和治疗。结果 205例矮小儿童中垂体性侏儒75例为36.6%,其身高、骨龄均显著落后,其中64.0%(48/75)有臀位、横位等难产窒息史,r-hGH治疗效果显著;非垂体性侏儒91例为44.4%(91/205),其中甲状腺功能低下、体质性生长发育延迟及脑发育不全占70例,为76.9%(70/91),甲状腺功能低下者骨龄显著落后于其他非垂体性侏儒,甲状腺素替代治疗效果满意;遗传性疾病39例,为19.0%(39/205),骨龄均正常,其中21-三体综合征28例,为71.8%(28/39),智力低下较其他遗传性疾病明显。结论 矮小儿童中以垂体性侏儒、非垂体性侏儒和遗传性疾病常见。避免臀位等难产窒息、开展产前诊断及新生儿筛查是必要的。

 
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