The X factor: An overview of triple X syndrome

Triple X syndrome (TXS) is a relatively common but underdiagnosed sex chromosomal abnormality since incidence / prevelance of normal phenotype is not defined. Available literature largely highlights the congenital abnormalities and post-natal morbidities associated with this condition. There has been an apparent rise in cases of TXS with increasing use of pre-natal genetic testing. Counseling can be difficult for medical professionals in view of extreme variability of the phenotype especially in prenatal cases. We describe our experience with TXS at the Genetic and Perinatology clinic, Wadia hospital and also review the available literature.