In the three years since convenient methods of human chromosome analysis have been available, three distinct syndromes involving an extra chromosome, other than the X-chromosome, have been described. The clinical findings in mongolism, the first of these three autosomal trisomies to be discovered, are generally known. The features of the syndromes associated with trisomy for a chromosome in the...

Objectives: The aim of the present article is to describe the clinical features and genetic conditions of the clinical syndromes/association characterized by facial dysmorphism, mental retardation, and aortic dilation, and compare with those of the syndromes with facial dysmorphism, mental retardation, and aortic stenosis. Methods: International literature of the syndromes characterized by faci...

OBJECTIVES Epidemiologic data concerning idiopathic generalized epilepsies (IGEs) are scarce or often unreliable. In the current study, we specifically analyzed the syndromes of IGE based on their demographic, clinical, and EEG findings to determine if other than the seizure type(s) and age of onset, there are any other distinctive features to distinguish these syndromes of IGEs from one anothe...