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目的:分析及总结生育障碍患者中染色体倒位核型的特点及临床意义。方法:临床分析不良妊娠结局夫妇双方的外周血染色体核型,对男方及女方不同性别间染色体异常的检出率进行比较并进行临床分析。结果:在2816例(1408对)患者中检出倒位核型31例,检出率为1.10%(31/2816),其中男性占16例,女性占15例。男方染色体倒位检出率为1.13%(16/1408),女方染色体异常检出率为1.06%(15/1408),检出率间无统计学差异(P>0.05)。在31例倒位核型中,共有inv(9)25例,检出率为0.89%(25/2816),占倒位核型总数目的 80.64%(25/31),另外还包括:1例inv(6)(q11q21),l例inv(7)(p15q36),1例inv(18)(p11q21),1例inv(1)(q34q22),1例inv(X)(p22q26)及1例inv(10)(q12q22);检出的染色体31例倒位核型异常均为单方(男方或女方)异常,其中,男方16例,占总的倒位核型数目的51.61%(16/31),女方15例,占总的倒位核型数目的 48.39%(15/31)。倒位核型的临床效应表现为胚胎停育、自然流产及21三体儿生育史等。结论:生育障碍患者中染色体核型倒位以inv(9)最为常见,inv(9)可能还具备某些潜在未知的临床效应,男方及女方核型倒位的检出率无统计学差异,男方染色体倒位核型异常对生育结局的影响需与女方同等评估,需在功能基因组学层面进行染色体倒位的基因重排及异常配对的分子机制研究。
Objective: To analyze and summarize the characteristics and clinical significance of chromosomal inverted karyotype in patients with maladjustment. Methods: The karyotypes of peripheral blood in both couples with adverse pregnancy outcomes were analyzed clinically. The detection rates of chromosomal abnormalities among male and female were compared and analyzed. Results: Totally 31 cases of inverted karyotype were detected in 2816 patients (1408 pairs), the detection rate was 1.10% (31/2816), of which 16 were male and 15 were female. The detection rate of chromosomal inversion was 1.13% (16/1408) in male and 1.06% (15/1408) chromosomal abnormality in female. There was no significant difference between the detection rates (P> 0.05). Among the 31 cases of inverted karyotypes, 25 cases were inv (9) with the detection rate of 0.89% (25/2816), accounting for 80.64% (25/31) of the total number of inverted karyotypes, as well as 1 case Inv (6) (q11q21), 1 inv (7) (p15q36), 1 inv (18) (p11q21), 1 inv (1) q34q22, 1 inv (X) inv (10) (q12q22) .Among the 31 chromosomes detected, the anomalous karyotypes were unilateral (male or female), of which 16 were male, accounting for 51.61% (16/31) of the total number of inverted karyotype ), 15 were female, accounting for 48.39% (15/31) of the total number of inverted karyotypes. Inverted karyotype clinical manifestations of embryo suspension, spontaneous abortion and trisomy 21 and so on. CONCLUSION: Inv (9) is the most common invariant chromosomal karyotype inversion in patients with fertility disorders. Inv (9) may have some potentially unknown clinical effects. There is no significant difference in the detection rate of karyotype inversion between male and female, The effect of abnormal chromosome abnormalities in karyotype on reproductive outcome needs to be assessed equally with that of the woman, and molecular mechanisms of chromosomal rearrangement and abnormal pairing should be studied at functional genomics level.