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  • Title: Uncommon Klinefelter's variant (49,XXXXY) with cleft palate.
    Author: Velidedeoğlu HV, Demir Z, Bozdoğan MN, Coşkunfirat OK, Kurtay A, Türkgüven Y.
    Journal: Ann Plast Surg; 1997 Aug; 39(2):213-5. PubMed ID: 9262781.
    Abstract:
    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.
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