trisomy

Around 30% of these cases are associated with trisomy 21.

大约30%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。

Trisomy 7 and trisomy 12 are common chromosome aberrations in lymphoma.

+7和+12是淋巴瘤常见的染色体畸变。

In 8 cases of trisomy pregnancy,the mean PAPP-A MoM in the second trimester was 0.72 MoM.

在本组8例三体综合征胎儿妊娠的孕妇中,孕期血清PAPP-A中位数倍数(multiples of the median,MoM)的平均值为0.72MoM。

A case of trisomy 22 liveborn female baby with multiple congenital anomalies is described.

摘要作者报告一例具有多种先天性异常的三染色体22症的活产女婴。

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 case of partial trisomy 13 is found on a male baby aged 3 months with multiple congenital abnormalities.

摘要本篇报告一例第13对部分三染色体之3个月大男婴,病人自出生卽被发现有多方面的先天性异常;

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。

Cases of trisomy 22 usually present with many severe malformations, and they rarely survive to term.

三染色体22症会引起严重的先天性畸形,因此活产病例相当少见。

Methods To analysis the sonographic characteristics of 14 fetus which had been karyotyped to be trisomy 13 and 18.

方法 对14例经脐血胎儿染色体核型分析确诊为13三体及18三体的胎儿超声表现进行分析。

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。

Underlying chromosomal abnormalities, such as trisomy 13, or maternal diabetes mellitus are possible causes, but some cases are sporadic.

潜在的染色体异常,例如三倍体13,或母亲的糖尿病也是可能的原因。

An aneuploid state in which a third homologous chromosome is present in addition to the normal autosomal pair is called trisomy.

除了正常染色体对以外,还存在有第二种同源染色体的非整倍体状态,被称为三体性。

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。

Six cases for trisomy 12 were detected by one centromeric probe for 12.And del(13q14.3),del(11q23) were usually detected in normal karyotype.

12号着丝粒探针检出6例有+12,而且D13S272(13q14.3)、ATM(11q23)缺失常发生在常规检测正常的核型。

Polysomy, which includes trisomy, is the condition in which one or more chromosomes are represented more than twice in the cell.

多染色体包括三染色体都是一条或多条染色体代替了正常细胞中的两条染色体形成的。

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。

This is the heart of a premature stillborn with Trisomy 13 in which a ventricular septal defect is visible in the membranous septum.

这是一例因13三体综合征而流产的早产儿心脏。可见室间隔缺损。

Objective To assess the effectiveness of sonographic screening and discuss sonographic characteristics of Down syndrome and trisomy 18.

目的对21及18三体综合征胎儿的超声声像图特征和超声筛查的价值进行评估。

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%)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%)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。

Title: Application of interphase fluorescen ce in situ hybridization to detect the f requence of trisomy 8 in myelodysplastic syndromes.

关键词:骨髓增生异常综合征;荧光原位杂交;间期;染色体8号;细;胞遗传学

This is a congenital anomaly that most often occurs in association with other anomalies or syndromes with specific genetic defects such as trisomy 18.

也可单独发生。

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% (1/ 18) ,非高龄组为 1.31% (3/ 2 2 9) ,P=0 .2 35 ,差异无显著性。

Synchronous firing trisomy has been used many calligraphy lovers, yes there is scientific in nature, are totally beginner can practice calligraphy calligraphy are used via.

同步练三体已经被众多的书法爱好者采用,是有科学性的,是完全可以让初学书法者运用的练字途经。

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%以上。

The term GCD has been loosely used in the literature and many conditions with only occasional cortical cysts e.g. trisomy 13-15 and Zellweger's Syndrome, have been included .

“肾小球囊性肾病”已经被广泛的使用在文献和偶尔出现在皮质囊肿的病例中,这些病例包括13-15三体和脑肝肾综合征。

Holoprosencephaly has a 50% association with trisomy 13, and omphaloceles are assocated with trisomies 13, 18, and 21.

全前脑畸形中50%与13-三体有关。脐膨出与13-三体、18-三体和21-三体有关。

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。

Other common features of trisomy 13 include the holoprosencephaly complex with distinct facial features.(31,78) Forty percent of cases with trisomy 18 hae cleft lip with or without cleft palate.

60%的病例中,13三体与唇裂和腭裂或单纯腭裂密切相关,13三体常见的其他特征还包括前脑无裂畸形合并明显的面裂[31,78]。

Conclusions High risk fetus with trisomy 13 and 18 can be detected by routine ultrasound examination, the prenatal diagnosis rate of fetul abnormaly can be increased by prenatal ultrasound study.

结论 超声产前筛查能有效地检出13及18三体综合征的高风险胎儿,有助于提高胎儿染色体异常的产前诊断。

Synchronous firing trisomy has been used many calligraphy lovers, has a scientific nature, is entirely possible to allow the use of learning calligraphy are ways to practice calligraphy.

同步练三体已被众多的书法爱好者采用,有科学性的,完全可以让初学书法者运用的练字途径。

This is a congenital anomaly that most often occurs in association with other anomalies or syndromes with specific genetic defects such as trisomy 18.However, it can also occur as an isolated anomaly.

这种先天畸形大多数发生在和其他的先天畸形有关或是由于18号染色体基因缺失而引起的综合征。

Methods The characters of prenatal ultrasonography of five fetuses with trisomy 18 were reviewed, which were finally diagnosed by karyotype analysis at our hospital in the past year.

方法对我院1年来经羊水细胞或脐血细胞染色体核型分析确诊为18-三体综合征的5例胎儿超声影像资料进行回顾性分析,评估超声在产前对18-三体综合征胎儿检出的临床价值。

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

21q partial distal trisomy syndrome

21q远侧部分三体性综合征

No.13 trisomy syndrome trisomy syndrome

帕塔综合征, 13号[染色体]三体综合征

Trisomy for short arm of chromosome 4

4号染色体短臂三体性

14q partial distal trisomy syndrome

14q远侧部分三体性综合征

14q partial proximal trisomy syndrome

14q近侧部分三体性综合征

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

20p partial trisomy syndrome

20p部分三体性综合征

20q partial trisomy syndrome

20q部分三体性综合征

21q partial trisomy syndrome

21q部分三体性综合征

22q partial trisomy syndrome

22q部分三体性染色体综合征