Azoospermia and cryptorchidism in a male with a de novo reciprocal t(Y;16) translocation


Gunel M., Cavkaytar S., CEYLANER G., Batioglu S.

Genetic Counseling, vol.19, no.3, pp.277-280, 2008 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 3
  • Publication Date: 2008
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.277-280
  • Keywords: Azoospermia, Cryptorchidism, Male infertility, Y;autosome translocation
  • Lokman Hekim University Affiliated: No

Abstract

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.