[Plasma protein and cerebral soluble protein disc electrophoresis in Down's syndrome].

Blood plasma proteins and soluble proteins from brain lobus frontalis of patients with mongolism were studied using polyacrylamide gel disc electrophoresis. A decrease in content of albumins, proteins of Gc system, transferrine, fast posttransferrines and an increase in amount of immunoglobulin proteins as well as of alpha 2-macroglobulin were observed in the preparations of blood plasma proteins. These alterations were apparently determined by impairments in functions of protein-synthesizing systems.

[Genetic characteristics of the "EEC" syndrome (ectrodactyly, ectodermal dysplasis, cheilognathopalatoschisis)].

The analysis of the literature and author's observations of the "EEC" syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) revealed that this is a disorder with an autosomal-dominant type of inheritance with an incomplete penetrance and varying expressivity. Both sexes are affected with the same frequency. The complete form of the syndrome was mentioned in 27 cases only; all other patients had incomplete forms.