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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[36]/46,XY[4]. 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.


Mina Hur, Hyoun Chan Cho, Kyu Man Lee, Hyokhan Park, So Yeon Lee, Kwang Nam Kim, Sun Hee Kim, Chang Suk Ki. 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. 2009 Sep;46(5):555-7

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PMID: 19929089

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