Abstract
A case is described of a girl with developmental retardation and facial anoma-lies.
A cytological abnormality was found consisting of a deletion of the short arm of one of the E chromosomes, which on the basis of morphologic and autoradiographic studies have been identified as a number 18 chromosome.
Autopsy findings included aplasia of the corpus callosum of the brain, congenital deformities of the cranial bones and of the chest.
The clinical and anatomical findings in 14 previously reported cases are dis-cussed.
