An infertile male with apparent 45,X turned out to have 45,X,der(Y)t(Y;13)(q11.2;q12),-13: clinicopathologic and cytogenomic studies

作者：Cui Ying Xia^*; Xia Xin Yi; Pan Lian Jun; Wang Yun Hua; Yao Bing; Huang Yu Feng

来源：Fertility and Sterility, 2007, 88(6): 1676.e7.

DOI：10.1016/j.fertnstert.2007.01.097

• 45,X Male
• Y-autosome translocation
• azoospermia
• SRY
• AZF
• angiolipomata
• gynecomastia

Objective: To conduct clinicopathologic and cytogenomic diagnostics of an infertile male with a karyotype of 45,X.
Design: Case report.
Setting: Research laboratory at a university hospital.
Patient(s): A male with a karyotype of 45,X was diagnosed because of infertility, and his parents also were examined.
Intervention(s): None.
Main Outcome Measure(s): Cytogenomics studies were performed by multiple polymerase chain reaction and fluorescent in situ hybridization.
Result(s): Testicular pathology results showed Sertoli cell-only syndrome, and the SC nodule tissue was diagnosed as angiolipomata. Thus, the patient's karyotype was reinterpreted to be 45,X,der(Y)t(Y;13)(q11.2;q12),-13. ish der(Y)(SRY+, DYZ3+, wcp13+). Analysis of DNA polymorphism showed that the chromosome X was of maternal origin.
Conclusion(s): This is the first case reported with a 45,X,der(Y)t(Y;13)(q11.1;q12),-13, which will be useful for the infertility phenotype-molecular karyotype correlation. (Fertil Steril (R) 2007;88:1676.e7-11.

• 出版日期2007-12
• 单位南京大学