Shi Qiu-Wen, Xu Chang-Long, Li Ni-Na, Liu Wei, Yang Lan, Deng Li-Wen, Qiu Ying
Center of Reproduction, Nanning Second People's Hospital, Nanning, Guangxi 530031, China.
Zhonghua Nan Ke Xue. 2017 Jan;23(1):65-68.
To explore the relationship between the clinical and genetic features of a short-statured azoospermia male with the karyotype of 45,X.
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.
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－).
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.
探讨一名核型为45,X的身材矮小的无精子症男性的临床特征与遗传特征之间的关系。
采用GTG带染色体分析技术，对一名身高150cm的无精子症不育男性进行核型分析，并通过荧光原位杂交（FISH）和聚合酶链反应（PCR）研究Y染色体上基因的存在及位置。
GTG带染色体分析显示患者核型为45,X,add(14)(p11)。PCR结果显示SRY基因中AZFa、AZFb、AZFc和AZFd缺失。FISH显示Y染色体短臂易位至14号染色体短臂，且Y染色体长臂大部分缺失，断裂位点靠近着丝粒区域。患者核型为45,X,der(Y)t(Y;14)(q11;q11.2), 14.ish (SRY+, CEP Y+ , DYZ1－)。
患者核型为不平衡的Y/14易位。SRY基因是男性性征的关键。AZFa - d的缺失导致生精障碍，Y染色体长臂缺失可能与身材矮小有关。
