遗传咨询

可以为PMD先证者及其家庭提供准确的遗传咨询和产前诊断。

Precise genetic counseling and prenatal diagnosis can be provided for probands with PMD and their families .

SSCP可以应用于对LHON的辅助诊断和遗传咨询。

PCR-SSCP can be applied in diagnosis and genetic counseling of LHON .

方法对我院优生遗传咨询门诊有产前诊断指征的孕妇采用羊水细胞培养G显带技术进行羊水细胞培养染色体核型分析。

Methods : G banding technique was used on cultured amniotic cells .

结论：提高对脆性X综合征的临床诊断意识，有助于该病的早期诊断及遗传咨询。

Conclusion : We should strengthen our diagnosis sense on the fragile X syndrome for early diagnosis the disease and genetic counselling .

方法对我院1999年6月～2001年6月780例优生遗传咨询者外周血G带染色体进行分析。

Methods Frequencies of chromosome aberrations based on chromosome G-banding results for 780 genetic consultants to our institute from June 1999 to June 2001 were analyzed .

GeneticCounseling遗传咨询服务当客户想要体验一下遗传过程，医生将可以对其许多遗传标记进行试验并预测。

Doctors will be able to test for dozens of genetic markers and predict when a person will likely experience a genetically based condition .

RB患者及家庭成员Rb基因突变和患病风险的基因诊断及遗传咨询

Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members

应用vWF基因多种多态性标志行DNA分析对重症vWD家系遗传咨询有实用意义。

DNA analysis based on polymorphism markers within vWF gene has practical values in genetic consulting of severe vWD pedigrees .

结论EXT1基因或EXT2基因突变，可导致EXT，本研究结果可直接应用于EXT的遗传咨询和产前基因诊断。

These results could be directly applied in the genetic counselling and prenatal genetic diagnosis of EXT.

1991年10月至1997年6月通过遗传咨询观察了智力低下（MR）儿童1680例，其中男性占53.3%，女性占46.7%；

From October , 1991 to June , 1997 , We investigated 1 680 children with mental retardation ( MR ) by means of genetic counselling . 53.3 % of them were male and 46.7 % were female .

结论用Southern印迹法诊断脆性X综合征，是一种可靠的首选检测方法，适用于出生后患儿及产前诊断及遗传咨询。

Conclusion Southern blotting is an efficient and reliable test which is the priority choice for the diagnosis of fragile X syndrome after birth , as well as its prenatal diagnosis and genetic counseling .

结论不同的男性染色体相互易位携带者减数分裂的分离结果可能不同，对其行精子FISH分析有助于提供更准确的遗传咨询和行胚胎植入前遗传学诊断的预后估计。

Conclusion For each reciprocal translocation carrier seems to have a particular meiotic segregation results , FISH analysis on sperm head should be done for each carrier in order to provide an accurate genetic counseling .

PCR方法简便迅速，成本低，较细胞学方法更具优越性，适于临床普及应用和人群筛查，是遗传咨询中的有效检查手段。

The PCR procedure has been proved fast , simple and low-cost . It has more advantages over cytogenetic method as an effective diagnosis means , suitable for clinical application and population screening .

目的了解Turner综合征患儿标记染色体的来源，以指导遗传咨询及治疗。

Objective To identify the origin of marker chromosome of patients with Turner syndrome , and to provide the information for genetic counseling and treatment .

一家三代Robertson易位t（15；21）及其优生遗传咨询的探讨

Robertson translocation t ( 15 ; 21 ) in 3 generations 1 family as well as birth health genetic counseling

本文对XXX综合征的病因，可能的表现型特征及相关的遗传咨询手段作一综述。

Genetic counseling is usually given to the47 , XXX patients and their parents concerning about the potential developmental and medical risks of this syndrome .

结论：在我国汉族人中，在vWF基因的5′端存在MspⅠ和RsaⅠ的多态性位点，可用于血管性血友病的遗传咨询和产前诊断。

Conclusion : The Msp ⅰ and Rsa ⅰ RELPs of vWF gene are useful for genetic counseling and prenatal diagnosis of vWD in Chinese Han people .

GFAP基因缺陷是造成中国人亚历山大病的原因，该突变结果可直接用于亚历山大病的遗传咨询和产前基因诊断。

The mutation analysis of GFAP gene can provide valuable information for the diagnosis of Alexander disease and can serve as a reliable method of prenatal diagnosis for the family .

目的发现HNPCC家系并对家族提供遗传咨询是HNPCC防治的一个重要策略。

One of the important strategies in the prevention and cure of HNPCC is to find the proband and give the family genetic counseling .

结论：ARMS法是用于检测β~T常见基因点突变的一项简单、可靠、经济的诊断方法，可用于指导高危人群的遗传咨询及携带者筛查；

Conclusion : ARMS is a simple , reliable and economic diagnosis technique for detecting popular β - thai locus mutation . It can be used to guidance , the inheritance consulting of the population at risk and filtrate the heterozygote of the β - thai ;

目的探讨对X连锁无汗性外胚叶发育不良（EDA）家系的EDA患胎进行产前诊断的可能性，为建立对该病的产前诊断及遗传咨询提供依据。

Objective To investigate the possibility of prenatal diagnosis of the fetal suspected to be affected by anhidrotic ectodermal dysplasia ( EDA ) in a family with X-linked EDA so as to provide a basis for prenatal diagnosis and genetic counseling of this disorder .

目的鉴定更多的单纯型大疱性表皮松解症（EBS）突变以研究EBS基因型和表型关系，为EBS的遗传咨询及基因诊断和基因治疗奠定基础。

Objective To identify additional epidermolysis bullosa simplex ( EBS ) mutations for studying the correlation between genotype and phenotype of EBS , and to provide hasis for genetic counselling , as well as for gene diagnosis and gene therapy .

结论CAG过度扩增为MJD的致病原因，利用基因突变分析可提供症状前预报及遗传咨询，并提供诊断及鉴别诊断，为基因分型提供科学依据。

Conclusion CAG expansions were related to MJD . The technique of gene mutation detection can provide an effective way for the prediction of asymptomatic and genetic counseling , diagnosis and different diagnosis , which was fundamental for gene typing .

目的研究湖南省壮族人群FraX中不稳定DNA序列的多态性，建立一种快速筛查FraX中FMR-1动态突变的方法，为提高遗传咨询和诊断水平奠定基础。

To study the frequency of the unsteady DNA sequence among minority nationality and establish the simple and rapid methods for screening and diagnosing fragile X syndrome , which layed a foundation for the consultation for heredity and diagnosis .

目的研究中国先天性视网膜劈裂症（XLRS）患者的基因突变，为患者及亲属提供基因诊断及遗传咨询。

Objective To investigate the mutations of the gene in Chinese patients with X linked juvenile retinoschisis ( XLRS ), and to provide the genetic diagnosis and consultation of heredity for the patients and their families .

合并异常的这种高频率，提示对所有唇腭裂病人都要提供遗传咨询及产前诊断。

This showed the necessity of genetic consulting and prenatal diagnosis .

贵州省1218例遗传咨询者的细胞遗传学研究和分析

The study of cytogenetics in the 1218 cases of genetic counseling

193例遗传咨询病例外周血染色体分析

Chromosomal analysis of peripheral lymphocytes in 193 patients for genetic counselling

121例遗传咨询门诊病例的细胞遗传学分析

Cytogenetic analysis of 121 genetically cases of counselled in the clinic

心理治疗模式遗传咨询的工作重点及基本程序

The Emphases and Basic Procedures of Genetic Counseling in Psychotherapeutic Model