染色体病

染色体病16种，1373例，占遗传病例5.86%。

Chromosome disease has 16 kinds , 1373 cases , make up 5.86 % .

通过超声筛查胎儿头颈部异常以找出其与染色体病的相关性。

To find out the correlation of fetal head and neck abnormality to chromosome disease through ultrasound screening survey .

NT增厚除了与染色体病密切相关外，还与先天性心脏病、胎儿畸形、贫血、感染等因素相关。

NT thickening is related to chromosomal syndromes closely , still to congenital heart disease , fetal abnormalities , anemia , infection factors .

Klinefelter综合征患者卵细胞胞质内单精子注射治疗和子代患染色体病的风险

Intracytoplasmic Sperm Injection for Klinefelter Patients and the Risk of Chromosome Anomaly in the Patients ' Offspring

染色体病38例，占12.50%。

And 38 ( 12.50 % ) of chromosomal disease factor .

羊水细胞培养诊断染色体病

Amniotic Fluid Cell Culture in Prenatal Diagnosis of Chromosomal Abnormalities

目的对临床怀疑染色体病或需排除染色体畸变的患儿进行细胞遗传学染色体检查，以探讨小儿先天异常与染色体异常之间的关系。

Objective To study the relationship between congenitally abnormal and their chromosomal disorder .

三种血清标记物对染色体病胎儿的筛查价值研究

Screening for chromosomal abnormalities with three maternal serum markers

结论风险筛查可以明显提高产前诊断染色体病的效力。

Conclusion : The effectiveness for prenatal cytogenetic diagnosis could be increased with screening risk .

目的：为了探讨高遗传风险新生儿与染色体病的关系。

TheTo investigate the correlation between newborn infants with high inheritance risk and chromosome diseases .

运用细胞和分子细胞遗传学技术对5例特殊染色体病患者的诊断和产前诊断

Diagnosis and Prenatal Diagnosis of 5 Patients with Particular Chromosomal Abnormalities by Cellular and Molecular Cytogenetic Techniques

结论：两性畸形、先天愚型、男性不育症染色体病风险率高；

Conclusion : Amphoteric abnormalities , Down ′ s syndrome and male infertility had a high risk of chromosome .

目前产前诊断的疾病有染色体病、性连锁遗传病、遗传代谢缺陷病及非染色体性先天畸形。

Some chromosomal disorder , sex-linked inheritance diseases , genetic metabolic defects and congenital malformations can be diagnosed by prenatal diagnosis .

对105例产前诊断对象作了羊水成活细胞和成活率分析，并采用改良的羊水细胞培养技术，进行染色体病产前诊断。

Viable cell analysis and prenatal chromosomal diagnosis with improved technique of amniotic fluid cell culture were performed in 105 cases .

多基因病、单基因病和染色体病的患病率分别为2.87‰、1.91‰和0.10‰。

The prevalence of polygenic diseases , monogenic diseases and chromosomal diseases was 2.87 ‰, 1.91 ‰ and 0.10 ‰ respectively .

妊娠相关血浆蛋白A筛查胎儿染色体病的灵敏度和假阳性率研究

Study on sensitivity and false-positive rate of serum pregnancy associated plasma protein A ( PAPP-A ) screening for abnormal fetal karyotype

目的：通过对清远地区976例细胞遗传及临床资料分析，以了解该地区染色体病在临床常见疾病中的发生率、相关性及异常核型。

Objective : To explore the incidence of chromosome disorder , correlation and abnormal chromosome karyotype in clinical common diseases in Qingyuan region .

本课程的五个重要内容包括染色体病、单基因遗传病、多基因遗传病、遗传学诊断与遗传咨询。

The field of this course mainly studies the chromosomal disorder , single gene disorder , polygenetic disorders , genetic diagnosis and counseling .

以假阳性率15%为标准，则分别可检测出50%、37%、31%染色体病胎儿。

They would respectively detect 50 % , 37 % and 31 % of affected pregnancies for a false positive rate of 15 % .

目的探讨用羊水细胞培养对孕16w~22w孕妇进行产前诊断的必要性及安全性，防止染色体病患儿出生。

Objective : To explore the necessity and security of prenatal diagnosis with amniotic cell culture at 16 to 22 week gestation and to prevent the birth of chromosomal abnormal fetuses .

遗传病是影响人口素质的重要因素，也是出生缺陷的主要原因。遗传病包括染色体病、单基因病、多基因病和线粒体病。

The genetic disease is an important factor affecting the quality of the population and the main cause of birth defects , including chromosomal diseases , single gene disorders , polygenic disease , and mitochondrial disease .

染色体遗传病探微

Explorations of Chromosome Disorder

遗传性皮肤病和非综合征型神经性耳聋（nonsyndromichearingimpairment，NSHI）是两大类比较重要的常染色体显性遗传病。

Inherited skin disease and nonsyndromic hearing impairment are two important autosomal dominant diseases .

通常认为EV是一种常染色体隐性遗传病，但是也有常染色体显性遗传及x连锁隐形遗传等多种遗传方式的报道，揭示了其遗传异质性。

It is universally recognized that the mode of EV transmission may likely be autosomal recessive , but autosomal dominant and X-linked recessive inheritance have also been reported .

结论：LP是一种罕见的常染色体隐性遗传病，中国人群中其致病基因的突变频率很低；

Conclusion : LP is an autosomal recessive disease , and the mutation of pathogenic gene of LP is rare in Chinese people .

结论：证实EXT为常染色体显性遗传病，本组外显率为97%。

Conclusion : EXT is an autosomal dominant disorder and the penetrance is 97 % in this report .

Wilson病是一种由铜蓄积引起肝脑损害的常染色体隐性遗传病。

Wilson 's disease ( WD ), an autosomal recessive disorder , is caused by copper accumulation resulted in subsequent damage to liver and brain .

遗传性血管性水肿是一种由于C1酯酶抑制剂的合成障碍或功能缺陷所致的常染色体显性遗传病。

Hereditary angioedema ( HAE ) is an autosomal dominant genetic disease caused by synthesis defect or dysfunction of C1 esterase inhibitor .

WD是神经科较为常见的常染色体隐性遗传病，其唯一致病基因为ATP7B基因。

WD is a common autosomal recessive inherited neuropathy , whose only pathogenic gene is ATP7B .

遗传性乳光牙本质（DentinogenesisImperfectatypeⅡ，DGI-Ⅱ）是一种常染色体显性遗传病。

Dentinogenesis imperfecta Shields type II ( DGI-II , MIM 125490 ) is an autosomal dominant disorder in which both primary and permanent teeth are affected .