Concomitance of 47,XXY, a balanced reciprocal translocation of t(4;17)(q12;q11.2) encompassing SPINK2 at 4q12 and NOS at 17q11.2 and an AZFa sY86 deletion in an infertile male

• Główni autorzy: Fang-Tzu Wu (Autor), Chih-Ping Chen (Autor), Shin-Wen Chen (Autor), Schu-Rern Chern (Autor), Po-Tsang Chen (Autor), Chien-Ling Chiu (Autor), Chen-Chi Lee (Autor), Wen-Lin Chen (Autor), Wayseen Wang (Autor)
• Format: Książka
• Wydane: Elsevier, 2023-03-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Objective: We present an infertile male who was incidentally detected to have Klinefelter syndrome, a balanced reciprocal translocation of t(4; 17) (q12; q11.2) and an AZFa sY86 deletion. We review the literature and discuss the significance of 47,XXY, t(4; 17) (q12; q11.2) and AZFa sY86 deletion in...