海南地区inv(9)伴多次流产的2家系研究
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摘要
目的对2例多次流产患者行细胞遗传学分析并进一步分析探讨。方法取患者肝素钠抗凝血约1.5ml行外周血细胞培养染色体分析,北昂染色体核型分析系统采图分析3-5个核型,视情况加做C显带分析。结果在1420例遗传咨询者中检出2例inv(9)(p12q13)伴多次流产家系。结论 9号染色体臂间倒位是反复自然流产的重要因素之一,对于发生自然流产的夫妇,进行夫妇双方染色体检查,排除遗传因素,对自然流产的诊治具有重要意义,在优生遗传咨询过程中应引起高度重视,染色体异常检出者应建议其产前诊断,做好优生优育,待积累大数据从分子水平进一步分析研究导致其生殖异常的机制。
Objective:Cytogenetic analysis was performed on 2 patients with multiple miscarriages. Methods:In patients with heparin anticoagulant is about 1.5 ml peripheral blood cell culture,chromosome analysis,north,chromosome karyotype analysis system in figure 3-5 karyotype,depending on the situation and do C banding analysis. Results:Families with multiple miscarriages(inv(9)(p12 q13)were found out from 1420 genetic consultants. Conclusion:Chromosome 9 interbrachial inversion is one of the important factors of recurrent spontaneous abortion. For patients with abortion,infertility,stillbirth,malformation,etc.,high attention should be paid in the process of eugenics genetic counseling,and those with chromosome abnormalities should be recommended for prenatal diagnosis and good eugenics.
Objective:Cytogenetic analysis was performed on 2 patients with multiple miscarriages. Methods:In patients with heparin anticoagulant is about 1.5 ml peripheral blood cell culture,chromosome analysis,north,chromosome karyotype analysis system in figure 3-5 karyotype,depending on the situation and do C banding analysis. Results:Families with multiple miscarriages(inv(9)(p12 q13)were found out from 1420 genetic consultants. Conclusion:Chromosome 9 interbrachial inversion is one of the important factors of recurrent spontaneous abortion. For patients with abortion,infertility,stillbirth,malformation,etc.,high attention should be paid in the process of eugenics genetic counseling,and those with chromosome abnormalities should be recommended for prenatal diagnosis and good eugenics.
引文
[1]李运星,马天根,罗安雪,等.1例inv(9)(p12q13)杂合子的精子单倍体染色体研究[J].遗传与疾病,1990,7(3):150.
[2]Cotter PD,Babu A,Mccurdy LD,et al.Homozygosity for pericentric inversions of chromosome 9.Prenatal diagnosis of two cases[J].Ann Genet,1997,40(4):222.
[3]夏家辉,李麓云.染色体病[M].第1版.北京:科学出版社,1989,275.
[4]张娜.自然流产与自然流产夫妇染色体异常的关系[D].天津医科大学,2015.
[5]张静敏,王世雄,胡琴,等.染色体倒位与优生研究[J].临床儿科杂志,2002,20(5):286-288.
[6]Teo SH,Tan M,Knight L,et al.Pericentric inversion 9--incidence and clinical significance[J].Ann Acad Med.Singapore,1995,24:302-304.
[7]Yamada K.Population studies of inv(9)chromosomes in 4,300Japanese:incidence,sex diference and clinical significance[J].Jpn J Hum Genet,1992,37:293-301.
[8]Demirhan O,Pazarbasi A,Suleymanova-Karahan D,et al.Correlation of clinical phenotype with a pericentric inversion of chromosome 9 and genetic counseling[J].Saudi Med J,2008 Jul,29(7):946-51.
[9]Antonín?ípek Jr,Romana Mihalová,Ale?Panczak,Lenka Hrc-ková,Mimoza Janashia,Nikola Kaspr-íková,Milada Kohoutová.Heterochromatin variants in human Karyotypes:a possible association with reproductive failure[J].Reproductive Bio Medicine Online,2014,29,245-250.
[10]徐燕华,艾友菊,陈芬,等.184对反复流产史夫妇的染色体分析.数理医药学杂志,2000,(13):261-262.
[2]Cotter PD,Babu A,Mccurdy LD,et al.Homozygosity for pericentric inversions of chromosome 9.Prenatal diagnosis of two cases[J].Ann Genet,1997,40(4):222.
[3]夏家辉,李麓云.染色体病[M].第1版.北京:科学出版社,1989,275.
[4]张娜.自然流产与自然流产夫妇染色体异常的关系[D].天津医科大学,2015.
[5]张静敏,王世雄,胡琴,等.染色体倒位与优生研究[J].临床儿科杂志,2002,20(5):286-288.
[6]Teo SH,Tan M,Knight L,et al.Pericentric inversion 9--incidence and clinical significance[J].Ann Acad Med.Singapore,1995,24:302-304.
[7]Yamada K.Population studies of inv(9)chromosomes in 4,300Japanese:incidence,sex diference and clinical significance[J].Jpn J Hum Genet,1992,37:293-301.
[8]Demirhan O,Pazarbasi A,Suleymanova-Karahan D,et al.Correlation of clinical phenotype with a pericentric inversion of chromosome 9 and genetic counseling[J].Saudi Med J,2008 Jul,29(7):946-51.
[9]Antonín?ípek Jr,Romana Mihalová,Ale?Panczak,Lenka Hrc-ková,Mimoza Janashia,Nikola Kaspr-íková,Milada Kohoutová.Heterochromatin variants in human Karyotypes:a possible association with reproductive failure[J].Reproductive Bio Medicine Online,2014,29,245-250.
[10]徐燕华,艾友菊,陈芬,等.184对反复流产史夫妇的染色体分析.数理医药学杂志,2000,(13):261-262.