A case of 49, XXXXY-Klinefelter syndrome with submucous cleft palate

Abstract

Klinefelter syndrome is a sex chromosomal aberration characterized by conditions such as testicular atrophy, gynecomastia, and azoospermia. The incidence of this syndrome is about 0.1% of all male births.
Because of its clinical characteristics, Klinefelter syndrome is usually diagnosed after puberty. Diagnosis depends on X-chromatin examination, and the karyotype is generally 47, XXY, or 48, XXXY. As the number of X increases, the level of disturbance increases. We report a case of Klinefelter syndrome with submucous cleft palate. This case was characterized by intellectual disturbance and 49, XXXXY.