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Korean Journal of Obstetrics & Gynecology 1999;42(9):2111-2114.
Published online January 1, 2001.
One Case of Prenatal diagnosed 48, XXYY.
Jeong Cheol Cho, Ok Cherl Shin, Jin Ho Kim, Sun Hee Hong, Chang Seong Kang, Ki Bum An, Young Mee Wang, Jong Kyou Park
Despite the rarity of 48, XXYY, having an incidence rate of 1 in 50,000 persons, 1 in 300 persons are reported to have a mental disorder of criminal behavior. The clinical characterics of 48, XXYY are similar to Klinefelter's syndrome such as small testis, tall stature, gynecomastia and can show mental retardation and skeletal anomaly. When the cause of elevated maternal serum AFP is not explained by USG or measurement of amniotic fluid AFP, during the second trimester of pregnancy, it is defined as unexplained elevation of maternal serum AFP. We report a case of 48, XXYY with unexplained elevation of maternal serum AFP which has been experienced in our hospital with brief review of literature.
Key Words: XXYY, Unexplained elevation of maternal serum AFP

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