A Case of Triple X Syndrome

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.