1例45,X男性的临床及遗传特征并文献复习

发布时间：2018-11-26 09:39

【摘要】：目的:探讨1例身材矮小合并无精子的45,X不育男性的临床表型与核型的关系。方法:采用外周血染色体G显带进行核型分析,PCR及FISH对Y染色体上SRY、AZF等基因进行检测和定位。结果:外周血染色体G显带分析显示该患者核型为45,X,add(14)(p11)。PCR结果显示该患者SRY基因存在,AZFa、AZFb、AZFc、AZFd全部缺失。FISH结果证实该患者Y染色体短臂及着丝粒区存在,且易位至14号染色体短臂,Y染色体长臂大部分片段丢失,断裂位点位于q11近着丝粒区。该患者核型描述为45,X,der(Y)t(Y;14)(q11;q11.2),-14.ish(SRY+,CEP Y+,DYZ1-)。结论:该患者核型实质是Y染色体与14号染色体的不平衡易位,SRY基因的存在是男性化的关键,AZFa~d区缺失导致精子生成障碍,Y染色体长臂缺失可能与身材矮小相关。
[Abstract]:Objective: to investigate the relationship between the clinical phenotype and karyotype of a 45 X infertile male with short stature and azoospermia. Methods: karyotype analysis was performed by G banding in peripheral blood chromosomes. SRY,AZF and other genes on Y chromosome were detected and located by PCR and FISH. Results: the G-banding analysis of peripheral blood chromosome showed that the karyotype of the patient was 45 X + add (14) (p11). PCR results showed that the SRY gene was present in the patient, AZFa,AZFb,AZFc, was found in this patient.) All the deletions of AZFd. FISH results confirmed that the short arm and centromere region of Y chromosome existed in this patient, and the translocation was to the short arm of chromosome 14, and most of the fragments of long arm of Y chromosome were lost, and the breakage site was located in the paracentric region of Q11. The karyotype of the patient was described as 45 (Y) t (Y14 (q11q11.2),-14.ish (SRY, CEP Y, DYZ1-). Conclusion: the karyotype of this patient is an unbalanced translocation between chromosome Y and chromosome 14. The existence of SRY gene is the key to masculinity. The deletion of AZFa~d region leads to sperm formation disorder, and the long arm deletion of Y chromosome may be related to short stature.
【作者单位】：南宁市第二人民医院生殖中心;
【基金】：广西自然科学基金面上项目(2011GXNSFA018276) 南宁市科技局科研立项(201003045C-8)~~
【分类号】：R698.2

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