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, cilt.19, sa.3, ss.277-280, 2008 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 3
  • Basım Tarihi: 2008
  • Dergi Adı: Genetic Counseling
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.277-280
  • Anahtar Kelimeler: Azoospermia, Cryptorchidism, Male infertility, Y;autosome translocation
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

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.