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. |
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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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