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目的:目的:分析特殊染色体核型的临床效应。方法:整理吉林大学第一医院近2003年1月~2013年1月就诊的特殊染色体核型患者的临床资料,根据临床表现和实验室检查结果,分析患者的染色体核型。结果:患者1的染色体核型:46,X,t(X;10)(q22;p15);患者2的染色体核型:46,X,t(X;14)(q28;q11.2);患者3的染色体核型;46,X,t(X;5)(Xpter→Xp10:5q10→5qter;5pter→5p10;Xp10→Xqter);患者4的染色体核型:45,X146,X,i(x)(q10)/47,x,i(x)(q10),i(x)(q10);患者5的染色体核型:46,xx,del(15)(q11 13);患者6的染色体核型:47,XY,+21,t(7;14)(q36;q13)。结论:X性染色体和常染色体相互易位及X等臂均可造成性腺发育不全和功能障碍,因此对长期闭经及不育患者进行染色体形态检查具有重要的临床意义。
Objective: To analyze the clinical effect of special karyotypes. Methods: The clinical data of patients with special chromosomal karyotype treated in the First Hospital of Jilin University from January 2003 to January 2013 were analyzed. The karyotypes of patients were analyzed according to the clinical manifestations and laboratory findings. Results: Patient 1 had a karyotype of 46: X, t (X; 10) (q22; p15); Patient 2 had a karyotype of 46: X, t Patient 3 Chromosomal Karyotype; 46, X, t (X; 5) (Xpter → Xp10: 5q10 → 5qter; 5pter → 5p10; Xp10 → Xqter); Patient 4 Chromosomal Karyotype: 45, X146, X, Chromosome karyotype of Patient 5: 46, xx, del (15) (q11 13); Chromosome of Patient 6 (x10) / 47, x, Karyotype: 47, XY, +21, t (7; 14) (q36; q13). Conclusion: Mutation of sex chromosomes and autosomes and X-arm can cause gonadal dysgenesis and dysfunction. Therefore, it is of great clinical significance to detect chromosome morphology in patients with long-term amenorrhea and infertility.