[XYY male with total anomalous pulmonary venous return and short stature]

To report a case of a 47 XYY male neonate with congenital heart disease and short stature.

This is the first case report of a 47 XYY male neonate associated with congenital heart disease (total anomalous pulmonary venous return) and small for date. The boy neonate was born at around 32 weeks of gestation with birthweight of 1134 g. An intracranial hemorrhage and pulmonary high flow were discovered at an early neonatal period. His physical and mental development was very retarded. The infant underwent a palliative ligation of ductus arteriosus and a ventriculoperitoneal shunt operation, but subsequently died due to consequent heart failure at 19 month-old.

This combination of XYY male and congenital heart disease may be a fortuitous one. However, we think it is important to report that there was a poor prognosis case of XYY male with congenital heart disease and short-stature.