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Case Report

49, XXXXY Syndrome with Multicystic Kidney in a Neonate

Eun Young Park, Soo Jee Moon

Clin Exp Pediatr. 2001;44(6):714-717. Published online June 15, 2001

The 49, XXXXY Klinefelter variant is distinctive; classic findings include mental retardation, hypogonadism and radioulnar synostosis. Its incidence is estimated to be 1/80,000 to 1/100,000 male births. We report a case of 49, XXXXY syndrome confirmed by chromosomal study in neonatal period, whose clinical features included a coarse face, short neck, micropenis, and other multiple minor anomalies including simian creases....

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