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Journal of the Korean Society of Neonatology 1999;6(2):249-252.
Published online January 1, 2001.
A Case of Triple X Syndrome.
Jung Hyun Kim, Kyung Tae Hwang, Kyong Og Ko, Eun Ju Kim, Yun Duk Yoo
Department of Pediatrics, Sun General Hospital, Taejeon, Korea.
Abstract
Since Jacob and associates in 1959 were the first to report a case of triple X syndrome associated with ovarian failure, the incidence of trisomy X in newborn population is estimated to be 1 in 1,000 live born female. Most of them have normal physical appearance and puberty. We report a case of a newborn with triple X syndrome confirmed by chromosomal study whose clinical features included left preauricular pit, broad nose, thin lip, anogenital anomaly. Echocardiography showed atrial septal defect and ventricular septal defect.
Key Words: Triple X syndrome, Neonate


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