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- Around 30% of these cases are associated with trisomy 21. 大约30%25这些病例同时合并又21三染色体。
- Cases of trisomy 21 were identified from the cytogenetics laboratory logbook. Down综合征(21三体综合症)的鉴别参照细胞遗传学手册。
- Amniocentesis was performed to rule out trisomy 21;the karyotype was normal: 46,XX. 羊水穿刺排除了21三体,染色体组型正常,46,XX。
- A short femur is associated with trisomy 21 rather than trisomy 13 and holoprosencephaly. 股骨短与21-三体而不是13-三体或全前脑畸形有关。
- Down syndrome (trisomy 21) is a disorder caused by the presence of an extra 21st chromosome. 唐氏综合症(三染色体21)是由于存在额外的第21号染色体而产生的一种疾病。
- So this fetus presented seeral signs of trisomy 21, including the hypoplasia of the nasal bone, hypodontia, micrognathia, and hypospadias. 这样,本例胎儿显示21三体的若干征象:包括鼻骨发育不全、牙发育不全、小颌和尿道下裂。
- The special obseration in this case is the lack or hypotrophy of the aleolar buds.Hypodontia and dental anomalies are known features of Trisomy 21. 本病例特殊的发现是牙槽缺乏或发育障碍,牙发育不全或牙齿异常时21三体的特征。
- The team began with a mouse model that carries a partial copy of chromosome 21 as is seen in Down syndrome (trisomy 21) containing 108 genes. 该研究团队首先制成了一个小鼠模型,小鼠身上携带了21号染色体的一部分片断,该片断包括108个基因,常可在唐氏综合症(21三体综合征)患者体内发现。
- There is a weak but fairly convincing association between chromosomal abnormalities such as trisomy 21 (Down syndrome) and echogenic foci in the heart. 在染色体异常(如21-三体)和心脏内强回声间有一定联系。
- Relative to fetuses with a nasal bone, those without a nasal bone were estimated to have about 150-times the risk of having trisomy 21. 与同有鼻骨的胎儿相比,那些没有鼻骨的胎儿估计有高于前者约150倍发生第21对染色体三体的机率。
- The nasal bone was absent in 43 of 59 (73%) trisomy 21 fetuses and in three of 603 (0.5%) fetuses with normal karyotype. 在59名第21对染色体三体的胎儿中有43名(73%25)出现了鼻骨缺失,在正常染色体组合的603名胎儿中有3名(0.;5%25)出现鼻骨缺失。
- In order to investigate the prevalence and distribution of trisomy 21 syndrome Down's syndron in China, an epidemiological study was conducted. 21三体综合征的现况研究旨在通过流行病学研究方法,了解中国21三体综合征的现患率及其分布特征。
- Cases of 18 trisomy、21 trisomy and Klinefelter Syndrome were diagnosed respectively using the established technique in our lab. 运用该技术我们成功地利用羊水标本诊断了18三体综合征,21三体综合征以及Klinefelter综合征各一例。
- Therefore the sonographer should search carefully for other signs of trisomy 21; if any are found an arnniocentesis will be advised. 因此,超声检查应仔细寻找其他与21-三体征有关声像,若有其他发现,应建议羊膜腔穿刺。
- In 18 pregnant women aged over 35 years,1 (5.56%) with trisomy 21 was detected, and 3 of trisomy 21 were in 229 pregnant women aged under 35 years (1.31%,P=0.235). 高龄孕妇中 2 1三体检出率为 5 .;5 6%25 (1/ 18);非高龄组为 1
- Examination of the nasal bone can increase the detection rate of screening of fetuses with trisomy 21 by the first trimester scan and serum biochemistry over 95% . 鼻骨检查结合母血生化测定综合筛查可使21-三体综合征的检出率上升到95%25以上。
- It turned out that 7 cases were found with trisomy 21.4 cases among the 9 916 negative-screening cases were born with trisomy 21,according to the analysis of the chromosome karyotypes in peripheral blood. 在筛查阴性的9 916例中,出生DS患儿4例,经外周血染色体核型分析证实为21三体。
- Study of Ag-stained NORS in Trisomy 21 Families 21三体征家庭的银染核仁形成区的研究
- Rapid detected of trisomy 21 syndrome by gene diagnosis techniques 快速检测21三体综合征基因诊断方法的研究
- Keywords Short tandem repeats;Trisomy 21;Molecular diagnosis; 短串重复序列;21三体;分子诊断;