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目的探讨性染色体核型异常的细胞遗传学效应。方法对有不良妊娩史、闭经、小睾丸综合症、精液质量异常、不孕症和外生殖器发育不良等患者按常规方法进行染色体核型分析。结果检出性染色体核型异常患者97例,共18种类型,其中大Y(Y≥18)29例,占异常核型的29.90%;45,XO 21例,占21.65%;47,XXY 17例,占17.53%;46,X,i(Xq)和45,XO/46,X,i(Xq)各8例,各占8.25%;46,XX/45,XO 3例,占3.09%;其他类型11例,占11.34%。主要临床表现分为:原发性闭经及Turner综合征48例,占性染色体核型异常患者的48.45%;小睾丸综合症19例,占19.59%;流产2次及以上患者16例,占16.49%;不良产史8例,占8.25%;外生殖器发育畸形4例,占4.12%;继发性闭经和隐睾各1例,分别占1.03%。结论细胞遗传学研究表明性染色体异常是性发育异常及引起生殖异常的主要原因之一。
Objective To investigate the cytogenetic effect of sex chromosome abnormalities. Methods Chromosomal karyotypes were analyzed by conventional methods in patients with history of poor delivery, amenorrhea, small testicular syndrome, abnormal semen quality, infertility and external genital dysplasia. Results There were 97 cases of abnormalities of karyotypes detected in 18 patients, of which 29 were large Y (Y≥18), accounting for 29.90% of the abnormal karyotypes; 45, 21 cases were XO, accounting for 21.65%; 47, XXY 17 Cases accounted for 17.53%; 46, X, i (Xq) and 45, XO / 46, X, Other types of 11 cases, accounting for 11.34%. The main clinical manifestations were divided into: primary amenorrhea and Turner syndrome in 48 cases, accounting for 48.45% of patients with abnormal chromosomal karyotype; 19 cases of small testicular syndrome, accounting for 19.59%; 16 cases of abortion secondary and above, accounting for 16.49 %; 8 cases of bad birth history, accounting for 8.25%; 4 cases of external genital malformations, accounting for 4.12%; 1 case of secondary amenorrhea and cryptorchidism, accounting for 1.03%. Conclusion Cytogenetics studies have shown that sex chromosome abnormalities are one of the main causes of sexual dysplasia and genital abnormalities.