99例异常染色体核型分析
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摘要
为了探讨外周血染色体和羊水染色体核型异常与疾病的关系并进行相关临床分析,收集2016年6—12月到中国人民解放军第181医院就诊的疑似有染色体病的患者1 868例,以及在深圳市人民医院就诊并自愿抽取羊水进行产前诊断的孕妇541名,通过常规方法制备染色体标本,进行染色体G显带核型分析。结果:共发现特别异常外周血染色体核型15例;胎儿染色体核型异常84例,阳性率为15.52%。这99例异常染色体核型表明染色体检查可以及时发现相关的染色体病,可以更加明确其遗传学诊断,避免盲目治疗,有效减少染色体异常患儿的出生。
To discuss the abnormalities in peripheral blood chromosomal karyotypes and amniotic fluid karyotypes,as well as their application in clinical analysis.Peripheral blood G-banding technique was used to analyze the chromosomal karyotypes of the genetic counseling patients from 181 st Hospital of Chinese People's Liberation Army and Shenzhen People's Hospital.1 868 samples of peripheral blood and 541 samples of amniotic fluid were collected for the preparation of chromosome specimens.15 abnormal karyotypes of peripheral blood were found in peripheral blood chromosomes.84 abnormal karyotypes were found in amniotic fluid chromosome with the screeing positive rate of 15.52%.There are 99 cases of abnormal chromosome karyotypes.The results showed that Chromosome examination can detect some related chromosome diseases timely,in order to identify its genetic diagnosis more clearly,avoid blind treatment,and reduce the birth of children with chromosomal abnormalities effectively.
To discuss the abnormalities in peripheral blood chromosomal karyotypes and amniotic fluid karyotypes,as well as their application in clinical analysis.Peripheral blood G-banding technique was used to analyze the chromosomal karyotypes of the genetic counseling patients from 181 st Hospital of Chinese People's Liberation Army and Shenzhen People's Hospital.1 868 samples of peripheral blood and 541 samples of amniotic fluid were collected for the preparation of chromosome specimens.15 abnormal karyotypes of peripheral blood were found in peripheral blood chromosomes.84 abnormal karyotypes were found in amniotic fluid chromosome with the screeing positive rate of 15.52%.There are 99 cases of abnormal chromosome karyotypes.The results showed that Chromosome examination can detect some related chromosome diseases timely,in order to identify its genetic diagnosis more clearly,avoid blind treatment,and reduce the birth of children with chromosomal abnormalities effectively.
引文
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[12]张磷,张晓红,任梅宏,等.1387例男性不育患者染色体核型及临床分析[J].中国优生与遗传杂志,2010,18(10):42-44.
[13]张月莲,郑梅玲,化爱玲,等.产前诊断指征在胎儿染色体异常诊断中的价值探讨[J].实用妇产科杂志,2009,25(12):724-726.
[14]朱建莹,陈星星,梁晓琴,等.两性畸形患者性别定位的选择及思考[J].医学与哲学,2014,35(9):11-13.
[15]吴瑞卿,张坤,刘光义,等.两性畸形诊治的思考[J].医学与哲学,2012,33(10):63-64.
[16]陈小波,徐爱萍,张玲莉,等.南通地区5286例遗传咨询者外周血染色体研究[J].检验医学与临床,2016,13(4):500-502.
[2]谢幸,苟文丽.妇产科学[M].8版.北京:人民卫生出版社,2013:47.
[3]许飞,耿金花.X染色体长臂等臂一例[J].中华医学遗传学杂志,2001,18(2):121.
[4]刘伟,马素侠.X染色体长臂等臂1例[J].蚌埠医学院学报,2000,25(3):216-216.
[5] HOMEY B,MELLER S.Chemokines and other mediators as therapeutic targets in psoriasis vulgaris[J].Clinics in Dermatology,2008,26(5):539-545.
[6] BROTHMAN A R,SCHNEIDER N R,SAIKEVYCH I,et al.Cytogenetic heteromorphisms:survey results and reporting practices of giemsa-band regions that we have pondered for years[J].Archive of Pathology and Laboratory Medicine,2006,130(7):947-949.
[7] GUO T,QIN Y,GAO X,et al.The role of male chromosomal polymorphism played in spermatogenesis and the outcome of IVF/ICSI-ET treatment[J].International Jounal of Andrology,2012,35(6):802-809.
[8]谢德纯.染色体异常及多态变异与不良生育患者染色体核型的相关性研究[J].检验医学与临床,2016,13(14):1985-1986.
[9]文锦丽,曾君,林秀华,等.1667份孕妇羊水染色体检测结果分析[J].中华医学遗传学杂志,2012,29(2):234-235.
[10]车峰远,李琳.临沂地区58例罗伯逊易位携带者的遗传学分析[J].中华医学遗传学杂志,2016,33(3):424-427.
[11]龚蔚蔚,陈洁晶,谭秋培,等.桂林地区656例不良孕产史遗传咨询者细胞遗传学分析[J].中国优生与遗传杂志,2013,21(6):63-64,71.
[12]张磷,张晓红,任梅宏,等.1387例男性不育患者染色体核型及临床分析[J].中国优生与遗传杂志,2010,18(10):42-44.
[13]张月莲,郑梅玲,化爱玲,等.产前诊断指征在胎儿染色体异常诊断中的价值探讨[J].实用妇产科杂志,2009,25(12):724-726.
[14]朱建莹,陈星星,梁晓琴,等.两性畸形患者性别定位的选择及思考[J].医学与哲学,2014,35(9):11-13.
[15]吴瑞卿,张坤,刘光义,等.两性畸形诊治的思考[J].医学与哲学,2012,33(10):63-64.
[16]陈小波,徐爱萍,张玲莉,等.南通地区5286例遗传咨询者外周血染色体研究[J].检验医学与临床,2016,13(4):500-502.