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  • Title: 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.
    Author: Cui YX, Xia XY, Pan LJ, Wang YH, Yao B, Huang YF.
    Journal: Fertil Steril; 2007 Dec; 88(6):1676.e7-11. PubMed ID: 17482602.
    Abstract:
    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.
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