兰州地区1400例遗传咨询病例染色体分析

我室自 1981年 3月至 2 0 0 0年 8月底 ,从遗传咨询病人中选择了 140 0例进行染色体分析。其中染色体数目及结构异常者 2 6 7例 ,占受检人数的 19 0 7% ,兹报道如下。资料与方法一、咨询对象1.曾生过遗传病或先天畸形儿者 ;2 .家族中或本人有遗传性疾病者 ;3.先天性智力低下者     

吕梁地区1702例遗传咨询患者外周血染色体核型分析

目的探讨本地区遗传咨询群体中染色体异常的发病率,为优生优育提供科学依据。方法按常规技术方法制备外周血染色体,并对染色体核型进行分析。结果在1702例咨询患者中发现异常核型298例其中常染色体异常者81例,占异常核型的27.1%,检出性染色体异常193例,占异常核型的64.7%。结论染色体异常是导致不良孕产史、无精子、闭经、畸胎和智力低下的重要原因之一。患者进行染色体核型分析具有重要意义,因此,对遗传咨询患者进行外周血淋巴细胞染色体检查是十分必要的。     

宁波地区1297例遗传咨询者外周血染色体分析

目的分析外周血染色体核型,了解某种疾病与异常核型出现的频率、类型的关系。方法采用外周血淋巴细胞染色体培养技术,行常规G显带核型分析。结果1297例遗传咨询者中,共检出异常染色体核型89例,检出率为6.86%。结论染色体异常是导致性发育异常、反复流产、生育畸形儿、不孕症等的重要原因之一,对有临床症状的患者进行染色体检查十分必要,可为优生优育和产前诊断提供依据。     

洛阳地区2600例遗传咨询者外周血染色体分析

目的通过对患者外周血染色体分析,探讨染色体异常与疾病的关系。方法按常规方法收获外周血淋巴细胞及制片,G显带后分析染色体核型。结果2600例患者共检出183例异常染色体核型,异常率8%,其中21-三体核型84例,易位24例,倒位染色体核型16例,性染色体异常及其它异常59例。结论染色体异常是引起智力低下、不孕不育、习惯性流产、发育畸形的主要原因之一,染色体检查对提高人口素质有重要意义。     

郴州地区4429例遗传咨询者外周血染色体分析

本文对 44 2 9例生育咨询者外周血淋巴细胞培养作G显带染色体分析 ,检出异常核型 38例 ,异常核型检出率为0 .86 % ,其中数目异常 7例 ,结构异常 30例 ,嵌合体 1例 ,并进行分析与讨论     

2806例遗传咨询者外周血淋巴细胞染色体分析

目的为了解智力低下、不良孕产史、原发及继发性闭经、性发育异常等患者病因。方法外周血染色体常规制备技术对前来我院遗传咨询和妇产科临床就诊的2806例患者进行G显带分析。结果2806例患者中发现异常核型269例,异常率为9.59%。结论染色体异常是导致上述疾病的原因之一,应引起社会的关注。     

大理地区1026例遗传咨询者外周血染色体核型分析

目的通过对1026例遗传咨询者进行染色体核型分析,探讨染色体异常与不孕不育、原发闭经、不良孕产史、智力低下的关系。方法采用外周血淋巴细胞培养,G显带进行染色体核型分析。结果发现异常核型101例,异常率为9.84%,其中常染色体数目、结构异常14例,异常率为1.36%,性染色体数目、结构异常18例,异常率为1.75%,性反转综合征2例,异常率为0.2%,染色体多态性67例,异常率为6.53%。结论染色体异常是导致不孕不育、原发闭经、不良孕产史、智力低下的重要原因之一,对高危人群进行染色体检查,为临床诊断及指导优生具有重要意义。     

新疆地区588例遗传咨询者外周血染色体核型分析

目的研究不良孕产史、不孕不育、青春期发育异常与染色体的关系,了解本地区遗传咨询者群体中染色体异常的类型和发生频率,给优生干预提供科学依据。方法对588例患者进行外周血淋巴细胞染色体G显带分析。结果588例患者中染色体异常117例,异常检出率19.89%,异常核型中常染色体异常34例,性染色体异常83例;单纯染色体数目异常18例,单纯结构异常97例,合并染色体数目、结构均异常2例。结论染色体异常核型是导致不良孕产史、不孕不育的重要原因之一。染色体核型异常与原发闭经,无精子症,青春期发育异常有密切的关系。     

连云港地区1027例遗传咨询外周血染色体核型分析

目的了解本地区遗传咨询门诊患者的染色体异常情况、频率及对妊娠结局的影响。方法对有不良孕产史、闭经或不孕、无精子症或不育和智力低下者行外周血染色体检查。夫妻一方染色体异常,孕妇孕中期行羊水或脐血产前诊断。结果发现染色体异常核型118例,异常检出率为11.5%。常染色体异常83例,占异常总数的70%;性染色体异常35例,占异常总数的30%。染色体核型异常的夫妻8例,胎儿染色体核型均异常。结论对遗传咨询者进行外周血染色体核型分析,可以明确染色体病的诊断,为患者进一步诊断提供依据,明确临床治疗路径,有利于优生。     

宜昌地区361例遗传咨询者外周血、脐血染色体分析

目的研究遗传咨询患者中染色体异常核型的发生率。方法回顾本院自2006年以来送检的361例外周血、脐血标本,通过染色体培养技术,G显带,必要时进行C显带检查,显微镜下进行核型分析。结果361例遗传咨询患者,就诊原因主要为胎儿畸形、体格或智力发育迟缓、性分化异常、不良孕产史及不育症、原发及继发性闭经等,共检出异常染色体核型19种类型,39例,检出率为10.8%（39/361）,其中常染色体结构和数目异常23例,占异常核型的58.97%（23/39）,性染色体结构和数目异常16例,占41.03%（16/39）。结论染色体异常是导致胎儿畸形、智力低下、不良孕产史、性发育异常等疾病的重要原因之一,对遗传优生咨询者进行有针对性的染色体检查是十分必要的。     

兰州地区464例遗传咨询病人的染色体分析

目的探讨染色体异常在遗传咨询病人中的发生情况.方法取受检者外周血进行淋巴细胞培养,常规收获制片,G显带处理,显微镜下进行核型分析.结果在464例病人中共检出染色体异常24例,染色体异常检出率为5.17%,其中平衡易位3例(12.5%),罗伯逊易位3例(12.5%),倒位5例(20.83%),性染色体异常8例(33.33%),染色体不平衡易位5例(20.83%).结论妇产科及生殖内分泌许多疾病与染色体异常有关,对这些病人进行染色体检查很有必要.     

464例遗传咨询者细胞遗传学分析

目的对464染色体异常患者在遗传咨询门诊中的发生原因与再发风险进行评估.方法取患者外周血进行淋巴细胞培养,常规收获制片,G显带处理,显微镜下进行染色体核型分析.结果在464例患者中,共检出24例异常染色体,染色体异常检出率5.17%,其中平衡易位3例(12.5%),罗伯逊易位3例(12.5%),倒位5例(20.83%),性染色体异常8例(33.33%),染色体不平衡移位5例(20.83%).结论在妇产科及生殖内分泌门诊中,有许多疾病与染色体异常有关,对其进行染色体核型分析与评估,可正确指导患者下次妊娠,减少不良孕产史的的发生.     

Outcomes and process in genetic counselling

Although it may be simple to evaluate some elements of clinical genetics, it is difficult to evaluate genetic counselling. We review previous studies of the outcomes of genetic counselling; although the methods used may be valid in research studies, there are practical and ethical difficulties in applying them to the measurement of clinical effectiveness in standard practice. No simple measures of outcomes would be suitable. Research evidence will be helpful in deciding what services it is appropriate to offer, and the quality of a service can then be assured by assessing the quality of the clinical process in three ways: 1) adherence to agreed protocols and standards of care; 2) peer review and audit of clinical activity; and 3) ongoing review of the satisfaction of clients and referring physicians with the service. The assessment of client satisfaction will need to be a sophisticated form of retrospective satisfaction with the service provided, and such a scheme has yet to be fully developed.     

Probability and likelihood in genetic counselling

The aim of this paper is to clarify some of the concepts used in the calculation of risk in genetic counselling. The use of probability as a measure of risk in a particular case is reviewed, with special reference to the Fisher - Neyman controversy. The technical concept of likelihood is then introduced and applied to risk probabilities themselves. The difficulties of interpretation are discussed, with a distinction drawn between calculating the risk for a child and inferring the genotype of his mother, even though the risk is wholly determined by the genotype. Fiducial inference is briefly mentioned, and the paper ends with a discussion of the problem which arises when the functional relationship between an unknown parameter and the unknown risk is not 1:1. The conclusion is tentatively reached that risk can only be gauged by probability and thus that prior probabilities must sometimes be assumed, but the paper is primarily intended as a guide and catalyst for the informed discussion of some of the difficulties, which may involve ethical dilemmas.     

The use of probability trees in genetic counselling

Calculation of genetic risks of persons who may be carriers of X-linked recessive conditions or autosomal dominant diseases with incomplete or delayed penetrance often requires the use of Bayes' theorem. Available methods of computing such risks are often too difficult or too time-consuming for clinicians to use routinely. Probability trees provide a rapid and simple graphical means of estimating genetic risks even in complex clinical situations. The use of probability trees is easily learned because the logic upon which they are based is inherent in their structure.     

Pitfalls of genetic counselling in brachydactyly type C

A familial case of brachydactyly type C is presented in which hand radiographs of the proposita's parents was considered normal. The metacarpophalangeal profile pattern of the mother's hands demonstrated minimal manifestations typical of brachydactyly type C. © 1994 Wiley-Liss, Inc.     

The use of structured scenarios in genetic counselling

Nineteen women at risk of bearing a child with either Duchenne muscular dystrophy or a neural tube defect participated in a structured scenario study. Eight scenarios were created to allow the women to "try out" possible reproductive outcomes. Our findings suggest that the use of scenarios may be helpful in reproductive counselling, particularly for those women who have difficulty discussing emotional issues.     

Reproductive drive and genetic counselling

A proper reproductive decision must take the intensity of the reproductive drive into account. Algebraic argumentation clearly shows that binary transposition of the odds and reproductive roulette are often inevitable, especially if the reproductive drive is not duly considered during the counselling process.     

An evaluation of reinforcement of genetic counselling on the consultand

This project studied the effect of reinforcement of genetic counselling in the home, on consultand recall of information discussed in the clinic. Acceptable recall was observed in 84% of 227 patients scored for recall of rate of recurrence, understanding of the nature of the disease at special risk and of its mechanism of origin. Our results show no significant difference in the frequency of acceptable recall after reinforcement of genetic counselling compared with an absence of reinforcement. The consultands' understanding was substantially affected by the type of genetic mechanism involved.