闭经患者的细胞遗传学病因及临床特征分析
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摘要
目的:探讨染色体异常在原发性和继发性闭经患者中的核型分布及临床意义。方法:对309例闭经患者进行外周血淋巴细胞培养,常规制片,G显带处理(必要时C显带),染色体核型分析。结果:309例闭经患者中,染色体异常84例,异常率27.18%,主要包括X染色体非整倍体(29例)、X染色体结构异常(10例)、存在Y染色体(14例)及镶嵌体(30例),其中X染色体数目和结构异常68例,占80.95%。结论:染色体异常是闭经的重要原因,无论原发性或继发性闭经,应常规行细胞遗传学检查。
Objective: To explore the distribution of karyotypes of chromosomal abnormalities in patients with primary and secondary amenorrhea and the clinical significance. Methods: Lymphocytes culture,routine slice making,G- band( C- band if necessary) and chromosomal karyotyping analysis were performed among 309 patients with amenorrhea. Results: Among 309 patients with amenorrhea,84 patients were found with chromosomal abnormalities,the incidence rate was 27. 18%,including 29 patients with X- chromosome aneuploid,10 patients with X- chromosome structural abnormality,14 patients with Y- chromosome and 30 patients with chromosomal mosaic; 68 patients were found with X- chromosome numerical and structural abnormalities,accounting for 80. 95%. Conclusion: Chromosomal abnormalities are important cause of amenorrhea,cytogenetic examination should be conducted routinely among the patients with primary and secondary amenorrhea.
Objective: To explore the distribution of karyotypes of chromosomal abnormalities in patients with primary and secondary amenorrhea and the clinical significance. Methods: Lymphocytes culture,routine slice making,G- band( C- band if necessary) and chromosomal karyotyping analysis were performed among 309 patients with amenorrhea. Results: Among 309 patients with amenorrhea,84 patients were found with chromosomal abnormalities,the incidence rate was 27. 18%,including 29 patients with X- chromosome aneuploid,10 patients with X- chromosome structural abnormality,14 patients with Y- chromosome and 30 patients with chromosomal mosaic; 68 patients were found with X- chromosome numerical and structural abnormalities,accounting for 80. 95%. Conclusion: Chromosomal abnormalities are important cause of amenorrhea,cytogenetic examination should be conducted routinely among the patients with primary and secondary amenorrhea.
引文
1 Dutta UR,Ponnala R,Pidugu VK,et al.Chromosomal abnormalities in amenorrhea:a retrospective study and review of637 patients in South India[J].Arch Iran Med,2013,16(5):267-270.
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8al G.Current concepts in disorders of sexual development[J].J Clin Res Pediatr Endocrinol,2011,3(3):105-114.
9 Hughes IA,Houk C,Ahmed SF,et al.Consensus statement on management of intersex disorders[J].Arch Dis Child,2006,91(7):554-563.
10 Saavedra-Castillo E,Cortés-Gutiérrez EI,DávilaRodríguez MI,et al.47,XXY female with testicular feminization and positive SRY:a case report[J].J Reprod Med,2005,50(2):138-140.
11 Takagi A,Imai A,Tamaya T.A novel sex-determining region on Y(SRY)nonsense mutation identified in a 45,X/47 ,XYY female[J].Fertil Steril,1999,72(1):167-169.
12 Wolff DJ,Van Dyke DL,Powell CM,et al.Laboratory guideline for Turner syndrome[J].Genet Med,2010,12(1):52-55.
13 Pasquino AM,Passeri F,Pucarelli I,et al.Spontaneous pubertal development in Turner's syndrome[J].J Clin Endocrinol Metab,1997,82(6):1810-1813.
14 Zinn AR,Tonk VS,Chen Z,et al.Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1[J].Am J Hum Genet,1998,63(6):1757-1766.
15 Jiao X,Qin C,Li J,et al.Cytogenetic analysis of 531 Chinese women with premature ovarian failure[J].Hum Reprod,2012,27(7):2201-2207.
16 Rizzllio F,Bione S,Sala C,et al.Chromosomal rearrangements in Xq and premature ovarian failure:mapping of 25new cases and review of the literature[J].Hum Reprod,2006,21(6):1477-1483.
2 Nik-Zainal S,Strick R,Storer M,et al.High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia[J].J Med Genet,2011,48(3):197-204.
3 Biason-Lauber A,Konrad D,Navratil F,et al.A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman[J].N Engl J Med,2004,351(8):792-798.
4 Meyers CM,Boughman JA,Rivas M,et al.Gonadal(ovarian)dysgenesis in 46,XX individuals:frequency of the autosomal recessive form[J].Am J Med Genet,1996,63(4):518-524.
5 Hughes LA.Disorders of sex development:a new definition and classification[J].Best Pract Res Clin Endocrinol Metab,2008,22(1):119-134.
6 Gottlieb B,Beitel LK,Nadarajah A,et al.The androgen receptor gene mutations database:2012 update[J].Hum Mutat,2012,33(5):887-894.
7 Mendonca BB,Domenice S,Arnhold IJ,et al.46,XY disorders of sex development(DSD)[J].Clin Endocrinol,2009,70(2):173-187.
8al G.Current concepts in disorders of sexual development[J].J Clin Res Pediatr Endocrinol,2011,3(3):105-114.
9 Hughes IA,Houk C,Ahmed SF,et al.Consensus statement on management of intersex disorders[J].Arch Dis Child,2006,91(7):554-563.
10 Saavedra-Castillo E,Cortés-Gutiérrez EI,DávilaRodríguez MI,et al.47,XXY female with testicular feminization and positive SRY:a case report[J].J Reprod Med,2005,50(2):138-140.
11 Takagi A,Imai A,Tamaya T.A novel sex-determining region on Y(SRY)nonsense mutation identified in a 45,X/47 ,XYY female[J].Fertil Steril,1999,72(1):167-169.
12 Wolff DJ,Van Dyke DL,Powell CM,et al.Laboratory guideline for Turner syndrome[J].Genet Med,2010,12(1):52-55.
13 Pasquino AM,Passeri F,Pucarelli I,et al.Spontaneous pubertal development in Turner's syndrome[J].J Clin Endocrinol Metab,1997,82(6):1810-1813.
14 Zinn AR,Tonk VS,Chen Z,et al.Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1[J].Am J Hum Genet,1998,63(6):1757-1766.
15 Jiao X,Qin C,Li J,et al.Cytogenetic analysis of 531 Chinese women with premature ovarian failure[J].Hum Reprod,2012,27(7):2201-2207.
16 Rizzllio F,Bione S,Sala C,et al.Chromosomal rearrangements in Xq and premature ovarian failure:mapping of 25new cases and review of the literature[J].Hum Reprod,2006,21(6):1477-1483.