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.


METHODS
Case report.


METHODS
Research laboratory at a university hospital.


METHODS
A male with a karyotype of 45,X was diagnosed because of infertility, and his parents also were examined.


METHODS
None.


METHODS
Cytogenomics studies were performed by multiple polymerase chain reaction and fluorescent in situ hybridization.


RESULTS
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.


CONCLUSIONS
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.
Cui
Ying-Xia
YX
Department of Reproduction and Genetics, Jinling Hospital, Clinical School of Nanjing University, Nanjing, People's Republic of China. cuiyx55@yahoo.com.cn
Xia
Xin-Yi
XY
Pan
Lian-Jun
LJ
Wang
Yun-Hua
YH
Yao
Bing
B
Huang
Yu-Feng
YF
D000328:Adult; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D041322:Chromosomes, Human, Y; D020732:Cytogenetic Analysis; D003937:Diagnosis, Differential; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000175:diagnosis*