Trisomy E (18) syndrome: clinical spectrum in 12 new cases, including chromosome autoradiography in 4.

The trisomy E (18) syndrome, first described by Edwards et al. (1960), is characterized by failure to thrive, narrow elongated skull with prominent occiput, micrognathia, low set ears, a short sternum, overlap of the middle fingers by the index and fifth fingers, rockerbottom feet with talipes calcaneovalgus and a prominent calcaneum, and the dermatoglyphic findings of an increased number of digital arch patterns with the palmar axial triradius in the t' position Though earlier studies were inconclusive as to whether the extra chromosome was a No. 17 This conclusion has been based primarily on the ability to distinguish morphologically the two chro- mosome pairs; confirmatory autoradiographic studies have been previously reported on only two cases With this report we add the routine chromo- some and clinical descriptions in 12 affected indi- viduals plus the chromosome autoradiographic findings in 4 of these patients.