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

• Main Authors: Fang-Tzu Wu (Author), Chih-Ping Chen (Author), Shin-Wen Chen (Author), Schu-Rern Chern (Author), Po-Tsang Chen (Author), Chien-Ling Chiu (Author), Chen-Chi Lee (Author), Wen-Lin Chen (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...