Three further cases of triploidy in man surviving to birth

Abstract

Three triploid infants, two male (69,XXY) and one female (69,XXX) all of which survived beyond 35 weeks' gestation are described. One was stillborn due to a difficult delivery, the other two survived for a few hours only. Two were of relatively low birth weight, the other was normal. There was no evidence of mosaicism in the tissue examined.

In keeping with previously reported triploid infants they showed a variety of abnormalities. From a total of 13 cases now reported the more frequent associated anomalies are low set ears, coloboma of the iris, syndactyly of the hands, a single palmar crease, abnormal male genitalia in XXY individuals, polycystic kidney, and congenital heart defect. The most common anomaly, however, is hydatidiform degeneration of a large placenta.