Cleft palate in a rare case of Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
Mina HurChang Suk Ki
Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism has been rarely reported, and its phenotypic features, compared with those of the classic type, have not been well delineated. We describe a newborn baby with phenotypic abnormalities, including cleft palate and low-set ears. The cytogenetic analysis of peripheral blood lymphocytes showed a karyotype of 48,XXXY/46,XY. To the best of our knowledge, this is the first case in which 48,XXXY/46,XY mosaicism was related to the congenital anomaly of cleft palate. This case underscores that cytogenetic analysis should be a mandatory workup for the patient with cleft palate and that cleft palate may be a rare clinical presentation of the variant Klinefelter syndrome.
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