Azoospermia and cryptorchidism in a male with a de novo reciprocal t(Y;16) translocation.
An apparently balanced reciprocal translocation between the long arm of the Y chromosome and the long arm of the chromosome 16 t(Y;16)(q12;q13) is described in an infertile man with azoospermia and cryptorchidism. The patient was phenotypically normal and had bilateral inguinal hernia repair with orchidopexy at the age of 8 years. Histological examination of testicular biopsies revealed maturation arrest. Y/autosome translocations in the literature are relatively rare and mostly associated with infertility. To our knowledge, this is the sixth report about the reciprocal t(Y;16) translocation in the literature but the first presenting with cryptorchidism.
Gunel
M
M
Zekai Tahir Burak Woman Health Research and Education Hospital, Department of Urology, Ankara, Turkey.
Cavkaytar
S
S
Ceylaner
G
G
Batioglu
S
S
D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D019457:Chromosome Breakage; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D003456:Cryptorchidism / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic / Q000235:genetics*