652
A new disease profile is added to our database – Klinefelter syndrome. It is a gonosome chromosome disorder due to additional chromosome X in men, occurring in all cells (total type) or in part of the cells (mosaic). It presents with male hypogonadism, azoospermia and infertility. It is usually an inborn defect and it is due to meiotic nondisjunction of the sex chromosomes during gametogenesis in either parent.To receive a full description of this rare disease absolutely free of charge, please click here and send us a request.The profile was written by our consultant in genetics – Prof. Dr. Margarita Stefanova, MD, PhD