Uncommon Klinefelter's variant (49,XXXXY) with cleft palate

The karyotype 49,XXXXY is a rare form of Klinefelter's syndrome. Various anomalies can be found in this variant--more than other variants of Klinefelter's syndrome. Cleft palate is rarely seen among these anomalies. A cleft palate deformity can be diagnosed early and easily. This deformity should cause one to suspect an uncommon variant of Klinefelter's syndrome. Here we present a patient with an uncommon variant of Klinefelter's syndrome who was diagnosed with the help of the presence of an incomplete cleft palate deformity.