Alport综合征|遗传咨询|优生," /> Alport综合征|遗传咨询|优生,"/>  ,Alport Syndrome| Genetic counseling| Eugenics,"/> <span style="font-size:14px;line-height:2;">Alport综合征遗传优生咨询及生育指导</span>
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发育医学电子杂志  2014, Vol. 2 Issue (2): 104-105    
  临床遗传   临床经验交流 |
Alport综合征遗传优生咨询及生育指导
解放军第二0二医院全军计划生育优生优育技术研究所,沈阳110003
The Case Study of Alport Syndrome Family History and Eugenics Counseling
PLA Family Planning, Prenatal and Postnatal Care Technology Research Institute People’s Liberation Amy No.202 Hospital Shenyang 110003 China 
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摘要 摘要】目的分析Alport综合征(Alport syndrome,AS)的遗传学特点,以提高遗传咨询水平。方法对一AS家族4代共15例进行调查分析。结果患者7例,可疑患者1例,家系中无近亲婚配史,连续3代均有患者(无性别差异)。结论认识AS遗传方式的多样性和遗传特征,进行对应的优生指导,必要时行产前诊断,保留健康胎儿。

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关键词:  Alport综合征|遗传咨询|优生')" href="#">">Alport综合征|遗传咨询|优生    
Abstract: [Abstract] Objects Analyze the genetic characteristic of Alport Syndrome (AS) to improve the quality of
genetic counseling. Method Investigated a family with family history of AS throughout four generations,
total 15 people. Result 7 people were diagnosed with AS, and 1 person was suspected patient. No one
throughout the four generations was married to relatives, but there were people showing AP symptom in three generations (no gender difference). Conclusion It is important to know how the AP gene was passed on through generations in the family, and its genetic characteristic. Patients should visit a doctor for prenatal diagnosis when it is necessary, so that the patient may only keep the healthy babies, in order to achieve the ecumenical purpose.

Key words:   ')" href="#">">     Alport Syndrome| Genetic counseling| Eugenics
收稿日期:  2014-02-13                出版日期:  2014-04-30      发布日期:  2019-09-05      期的出版日期:  2014-04-30
引用本文:    
盂培 闰素文. Alport综合征遗传优生咨询及生育指导[J]. 发育医学电子杂志, 2014, 2(2): 104-105.
MENG Pei, YAN Suwen. The Case Study of Alport Syndrome Family History and Eugenics Counseling. Journal of Developmental Medicine(Electronic Version), 2014, 2(2): 104-105.
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http://www.fyyxzz.com/CN/  或          http://www.fyyxzz.com/CN/Y2014/V2/I2/104
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