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.

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.