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In the examined family the proband, a 14 months old male, presented a bilateral anophthalmos, bilateral cryptorchism, phimosis and decalcification of the nails. The palpebral fissures and the eyelids are smaller than normal; the orbit was empty, clad by a connective tissue without ocular buds. The testicles are unpalpable in the inguinal canal. The proband have a normal karyotype. Also a brother of the proband, dead for meningitis (age five months), had bilateral anophthalmos. The maternal branch of the family is lacking in hereditary pathology. On the contrary, the anamnesis of the paternal branch present very interesting data. His grandmother married twice; from the first marriage came, at the second generation, the sibship of the father, who had a sister with Franceschetti syndrome and another sister with double lower dental arch. From a second marriage originated, at the second generation, eleven siblings sibship, all seriously malformed and a dead infant, but the first-born having bilateral anophthalmos.

A sample of the Italian population was investigated to determine the CHE1*u, CHE1*a and CHE1*f allelic variants at the polymorphic locus CHE1 for the serum cholinesterase enzyme. We examined 4051 serum samples from schoolchildren of Milan and estimated the following allelic frequencies for the CHE1 locus: CHE1*u = 0.9636; CHE1*a = 0.0263; CHE1*f = 0.0101. These allelic frequencies are compared with those from other Italian, European, North African and Middle-Eastern countries. Our study confirms the validity of Garry's method in discriminating between the "usual" genotype and the "atypical" and "fluoride-resistant" ones.

A large family with essential hereditary myoclonus is reported. Symptoms and signs, the age of clinical onset and the evolution are presented. The disease is autosomal dominant with complete penetrance.

Glucose-6-phosphate dehydrogenase (G-6-PD) deficient erythrocytes are particularly sensitive to oxidant stress. In order to evaluate if these cells are protected against oxidant damage, we assayed the antioxidant enzymes superoxide dismutase (SOD), catalase and glutathione peroxidase (GSH-Px) in erythrocytes of G-6-PD deficient (hemizygous and heterozygous) subjects. Normal levels of antioxidant enzymes were found in all subjects examined both with positive and negative histories of haemolytic crisis after fava bean or drug ingestion. In contrast, high levels of catalase and GSH-Px were found in a small group of G-6-PD deficient subjects (hemizygous and heterozygous) with beta-thalassaemia trait, probably by reason of the chronically enhanced oxidant stress which is present in beta-thalassaemia.

In our Department a yearly screening is carried out on the school population of Milan, in order to detect beta-thalassaemic trait carriers and G-6-P-D deficient males. This report deals with the results obtained on a group of 21,118 males. They all showed very low enzyme activity and often just detectable; the fall of GSH after incubation with acetylphenhylhidrazine appeared significantly greater than normal. Only 3 cases of hemolytic crises by fava beans ingestion and 7 cases of neonatal jaundice resulted from anamnestic data.

Erythrocyte glutathione peroxidase (GSH-Px) was assayed in subjects of Mediterranean origin and the distribution of the data obtained seems to confirm the existence of two alleles coding for low and high enzyme activity. In order to define the limits of expected genotypes less arbitrarily we studied families where parents' genotypes could allow us to define that of the children. Gene frequencies were calculated from genotype frequencies of an unrelated population and from crossings distribution by the Hardy-Weinberg equation. We observed a good agreement between gene frequencies obtained by these two different methods.

Erythrocyte antioxidant enzymes, superoxide dismutase, catalase and glutathione peroxidase were found to be significantly high in subjects with alpha-thalassaemia and Hb Lepore trait, as a consequence of the increased oxidant stress which is known to exist in these conditions. Among the serum trace elements present in these enzymes, selenium was increased in subjects with Hb Lepore trait and significantly low in those with alpha-thalassaemia trait, while selenium erythrocyte content was significantly increased in alpha-thalassaemic subjects.