Triple X Syndrome with Congenital Anomalies: A Rare Case Report

Abstract

Triple X syndrome is a relatively common chromosomal abnormality affecting 0.1% of live-born girls. Most of these girls have a normal phenotype and only a few cases have birth defects. The diagnosis of triple X syndrome may never be made because the clinical manifestations are not important to prompt the request for a karyotype. Prenatal diagnosis is often made before advanced maternal age. Parents of triple X children should be counseled regarding the significance of this syndrome and its prognosis. We report a case of triple X syndrome diagnosed in a five-day-old female newborn, with facial asymmetry, a palpebral coloboma and bilateral auricular appendages, the diagnosis was established by cytogenetic study on a constitutional karyotype which showed profile 47, XXX. Informed parental consent is required.