【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。更多还原

【Abstract】 Objective: To explore the relationship between the clinical and genetic features of a short-statured azoospermia male with the karyotype of 45,X. Methods: Using GTG-banded chromosome analysis,we performed karyotyping for a 150 cm-high infertile male with azoospermia and investigated the presence and location of the genes on the Y chromosome by FISH and PCR. Results:GTG-banded chromosome analysis showed the karyotype of the patient to be 45,X,add( 14)( p11). The results of PCR manifested the deletion of AZFa,AZFb,AZFc,and AZFd in the SRY gene. FISH revealed the translocation of the short arm of the Y chromosome to that of chromosome 14 and deletion of most proportions of its long arm,with the disruption site close to the centromere region. The karyotype of the patient was 45,X,der( Y) t( Y; 14)( q11; q11. 2),14. ish( SRY +,CEP Y +,DYZ1-). Conclusion: The karyotype of the patient was unbalanced Y /14 translocation. The SRY gene is the key to maleness. The deletion of AZFa- d induces spermatogenic disturbance,and the deletion of the q arm of the Y chromosome may be related with short stature.更多还原