女性原发性闭经与染色体异常关系探讨
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摘要
目的探讨染色体异常与女性原发性闭经的关系。方法对2014年1月-2018年6月在我院妇科就诊的242例原发性闭经女性的进行外周血染色体核型分析。结果 242例原发性闭经女性的外周血染色体核型共检出异常核型32例,其中包括了染色体数目异常、染色体结构异常、X染色体-常染色体平衡易位及含Y染色体,其中:①染色体数目异常18例,占56.25%;②染色体结构异常11例,占45.45%;③X染色体-常染色体平衡易位1例,占0.41%;④Y染色体相关2例,占0.82%。结论性染色体异常是女性原发性闭经的重要病因。
Objective:To investigate the relationship between chromosomal abnormalities and primary amenorrhea in women.Methods:From January 2014 to June 2018,242 cases of primary amenorrhea in our department of gynecology were analyzed for karyotype of peripheral blood. Results:A total of 32 abnormal karyotypes were detected in the peripheral blood karyotype of 242 women with primary amenorrhea,including abnormal chromosome number,abnormal chromosome structure,X chromosomeautosomal balance translocation and Y chromosome. There were 18 cases with abnormal number,accounting for 56.25%;11 cases with abnormal chromosome structure,accounting for 45.45%;1 case with X chromosome-autosomal balance translocation,accounting for 0.41%;2 cases with Y chromosome,accounting for 0.82%. Conclusion:Sex chromosomal abnormalities are an important cause of primary amenorrhea in women.
Objective:To investigate the relationship between chromosomal abnormalities and primary amenorrhea in women.Methods:From January 2014 to June 2018,242 cases of primary amenorrhea in our department of gynecology were analyzed for karyotype of peripheral blood. Results:A total of 32 abnormal karyotypes were detected in the peripheral blood karyotype of 242 women with primary amenorrhea,including abnormal chromosome number,abnormal chromosome structure,X chromosomeautosomal balance translocation and Y chromosome. There were 18 cases with abnormal number,accounting for 56.25%;11 cases with abnormal chromosome structure,accounting for 45.45%;1 case with X chromosome-autosomal balance translocation,accounting for 0.41%;2 cases with Y chromosome,accounting for 0.82%. Conclusion:Sex chromosomal abnormalities are an important cause of primary amenorrhea in women.
引文
[1]欧阳鲁平,费冬梅,黄红倩,等.372例原发性闭经患者的细胞遗传学分析[J].中国优生与遗传杂志,2018,8:49-50.
[2]夏蓓.530例原发性闭经患者的细胞遗传学分析[J].中华医学遗传学杂志,2017,2(34).
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[4]Gravholt CH.Epidemiological,endocrine and metabolic features in Turner syndrome[J].Arq Bras Endocrinol Metabol,2005,49(1):145-156.
[5]Tachdjian G,Aboura A,Portnoi MF,et al.Cryptic Xp duplication including the SHOX gene in a woman with 46,X,del(X)(q21.31)and premature ovarian failure[J].Hum Reprod,2008,23(1):222-226.
[6]Cottrell CE,Sommer A,Wenger GD,et al.Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy[J].Am J Med Genet A,2009,149a(3):408-414.
[7]Rizzolio F,Bione S,Sala C,et al.Chromosomal rearrangements in Xq and premature ovarian failure:mapping of 25 new cases and review of the literature[J].Hum Reprod,2006,21(6):1477-1483.
[8]Jorgensen PB,Kjartansdottir KR,Fedder J.Care of women with XY karyotype:a clinical practice guideline[J].Fertil Steril,2010,94(1):105-113.
[2]夏蓓.530例原发性闭经患者的细胞遗传学分析[J].中华医学遗传学杂志,2017,2(34).
[3]Rossetti R,Di Pasquale E,Marozzi A,et al.BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein[J].Hum Mutat,2009,30(5):804-810.
[4]Gravholt CH.Epidemiological,endocrine and metabolic features in Turner syndrome[J].Arq Bras Endocrinol Metabol,2005,49(1):145-156.
[5]Tachdjian G,Aboura A,Portnoi MF,et al.Cryptic Xp duplication including the SHOX gene in a woman with 46,X,del(X)(q21.31)and premature ovarian failure[J].Hum Reprod,2008,23(1):222-226.
[6]Cottrell CE,Sommer A,Wenger GD,et al.Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy[J].Am J Med Genet A,2009,149a(3):408-414.
[7]Rizzolio F,Bione S,Sala C,et al.Chromosomal rearrangements in Xq and premature ovarian failure:mapping of 25 new cases and review of the literature[J].Hum Reprod,2006,21(6):1477-1483.
[8]Jorgensen PB,Kjartansdottir KR,Fedder J.Care of women with XY karyotype:a clinical practice guideline[J].Fertil Steril,2010,94(1):105-113.