Mean frequencies of the Swedish blood group genes of the A1A2BO, MN, P and Rh(CcDE) systems are given with special regard to the Cw and Du factors. The frequencies are calculated from materials of non-related, adult persons, mothers and alleged fathers in paternity cases, which materials must be regarded as free from any clinical or other influencing blood group selection.

Since the late thirties a syndrome has been progressively completing its description. It consists essentially in juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss and optic atrophy. Neurosensory hearing loss, neurogenic bladder, autonomic dysfunction and hyperalanineuria have been added. The syndrome is generally familial.

Electrophysiologic and psychophysiological retinal studies have been done in these cases. Profound electrophysiological disturbance has been described. Cases under actual evaluation are presented. Physiopathologic processes remain a problem. The nature of the retinal affection is also open for discussion.

Two members of an Italian family are affected with progressive spinal muscular atrophy. One, a male, has had the disease since his early infancy and, though severely disabled, is still living at the age of 13. In his sister, the first symptoms appeared at the age of 15, and the disease seems to be rapidly advancing. Their parents were consanguineous. Their mother, however, married twice, her second marriage being nonconsan-guineous and producing no affected children.

The study of this family and an analysis of the literature led to the following conclusions: (a) early onset of the disease does not necessarily mean that the course will be malignant; (b) the disease usually has a similar onset and course in subjects belonging to the same family.

In many families, however (and these have been examined in the present paper) malignant Werdnig-Hoffmann disease is found to coexist with the Werdnig-Hoffmann disease with a prolonged course, the Wohlfart-Kugelberg-Welander disease with infantile onset, and the Wohlfart-Kugelberg-Welander disease with juvenile onset. We feel, therefore, that from a genetic point of view all these forms should be included into one and the same group.

Central pockets were defined as small, loop-enclosed whorls whose quantitative values must not exceed the third part of the quantitative value of the loop or as small, whorl-like patterns in the core of a loop having at least one curved ridge with its convexity towards the opening of the loop. Applying this classification scheme, the frequency of central pockets was found to be 17.5% in 200 males and 17.0% in 200 females, but was significantly higher in a sample of 21 male and 22 female pairs of MZ twins (33.2% and 34.1%, respectively). Twin as well as family data (94 families with 269 children) pointed to a rather weak hereditary influence upon the formation of central pockets. Rudimentary central pockets occurred in 9.5% of males and 10.0% of females. Since no common genetic basis could be established for central pockets and rudimentary central pockets, the latter should not be scored as central pockets.

The authors have studied the variations of the mitotic index and the association index of the acrocentric chromosomes (groups D and G) in eight male twin pairs of assorted age (6 and 60 years) and zygosity. For each individual, two subcultures of peripheral blood lymphocytes have been set up by the standard techniques. After colchicine administration and hypotonic shock, two slides per culture have been prepared and stained with lactoacetic orcein, thus providing the experimental material. The study of variability between individuals, between tests and between age groups indicates the importance of the age factor for the assessment of both indexes.

The study of the variability of intrapair differences indicates that the phenomena are both statistically and dynamically genotype-dependent. The weight of heredity, in the sum of all the factors affecting the phenomena, is 0.79 for the mitotic index and 0.51 for the association index.

The present study compared two different types of English-language teaching approaches, the grammatical approach (GA) and the communicative approach (CA), by the cotwin control method. This study has two purposes: to study the effects of teaching approaches and to estimate genetic influences upon learning aptitudes. Seven pairs of identical twins (MZ) and 4 pairs of fraternal twins (DZ) participated in the experiment along with 68 other nontwin fifth graders. Each cotwin was assigned to the GA and CA respectively and received 20 hours of lessons over a 10-day period. The behavioral similarities between MZ cotwins were statistically and descriptively depicted. No major effect of either teaching approach was noted, but the genetic influence upon individual differences of learning achievement was obvious. Furthermore, an interesting interaction between the teaching approaches and intelligence was found, that is, that the GA capitalises on and CA compensates for intelligence. This interactional pattern could be interpreted as an example of genotype-environment interaction. The relationship between genetic factors and learning aptitudes is discussed.

A study of weight increase in the first year of life has been carried out on a sample of 50 MZ and 50 DZ twin pairs of both sexes, as compared to a similar sample of singletons. The results show that weight increase, as examined at different stages in the first year of life, undergoes significant hereditary conditioning (H ≃ 0.60).

Description of 3 cases of identical twins affected by concordant oxycephaly. In the first case, one of the twins had a son who was likewise afflicted by a typical scaphocephaly. In the second case, both children showed also a convergent concomitant strabismus, which was latent in one and manifest in the other, and moreover a concordant ptosis. In the third case, the oxycephaly was associated with cutis frontis gyrata homologous in both twins.

A confrontation of the cases of oxycephaly in identical twins based on the literature and our personal cases, shows clearly a majority in favour of concordance : 25 concordant pairs as compared to 10 discordant ones; the fraternal twins (7-8 cases) are all discordant as regards oxycephaly. The cases of discordant oxycephaly in monozygotic twins must therefore be interpreted as the result of an unstable gene of feeble penetrance. The conclusion of the genotypic origin of oxycephaly is corroborated by some pedigrees showing a transmission through 2 or more generations. Two reported cases with consanguinity of the parents suggest likewise the possibility of recessive inheritance.

The association of oxycephaly with cutis frontis gyrata, as observed in our third case, having not yet been described, we cannot for the moment decide whether this combination is due to chance or whether there exists a pathogenic correlation between both anomalies.

A healthy 23-year-old woman with amenorrhea was examined at the Mendel Institute. She had been amenorrheic for 4 years, and had not responded to hormone treatment. We therefore decided to study her family tree and karyotype. We describe the results of our study here: the patient was found to have gonadal dysgenesis, caused by translocation of a fragment of the X to a 12 chromosome, resulting from a break at q21, at the end of the q-arm.

A pedigree of «cup-shaped» ears (as described by Potter), with 7 cases in 5 generations. The abnormality is heredited as a dominant.

The aims of this study were: 1) to study the characteristics of birth and neonatal mortality (NM) rates of twins as compared to singletons in recent years in Italy; 2) to evaluate NM rate differences among twins and singletons by birthweight: 3) to calculate the cause-specific NM rates among singletons and twins. Data concerning all live-born infants were obtained from the birth and death records of the Italian Institute of Statistics (ISTAT) for the years 1981, 1985, 1989 and 1990 and were analyzed by the Statistics Office of the Italian National Institute of Health. Between 1981 and 1990 the incidence of twins increased from 18.3 to 19.1 per thousand livebirths. This increase was mainly related to twins resulting from multiple pregnancies, thus, the proportion of twins weighing < 1500g also increased from 67 to 77 per thousand. Twins accounted for 10% of overall neonatal mortality in 1981 and 14% in 1990. Between 1981 and 1990 in the Centre-South of Italy the crude NM rates showed a greater decrease among singletons than among twins, while in the North the decrement involved both singletons and twins. The birthweight-specific NM rate showed a steady improvement in survival for twins rather than for singletons in the 1500-2499g weight range. Taking each cause of death in 1989-90, NM rates were considerably higher for twins compared to singletons, Twin mortality risks due to newborn respiratory distress syndrome (RDS) and asphyxia were respectively 11 and 8 times that of singletons. The comparison between twin NM rates in the three geografical areas and in relation to the cause of death indicated a greater incidence of RDS and asphyxia in the Centre-South than in the North.

This study offers indications on the planning of perinatal care in order to improve twin survival in the Centre and South of Italy, particularly with regard to the prevention and care of asphyxia-RDS.

The Authors report a 54-year-old male MZ twin pair with two single-born relatives suffering from glaucoma.

The twins are concordant as to glaucoma, but onset of the disease in the first-born occurred 20 years later than in the second-born. This high chronological difference is ascribed to the hardships the latter twin had suffered for three years in Africa.

The meaning of anticipation is discussed in the light of modern views on the time dimensions of the unit of inheritance (chronon).

This review deals with CNS troubles and anomalies (excluding mental defects and oligophrenia, as well as primary muscular degenerations), that account for approximately 25 percent of all cases of genetic counseling in our material.

From a genetic-counseling perspective, CNS affections may be easily classed as follows: (1) congenital malformations; (2) monofactorial Mendelian affections; (3) diseases with a possibly hereditary disposition (e.g., arthrogryposis); (4) infant cerebral palsies; and (5) epilepsies.

In our own material, CNS congenital malformations account for approximately 60 percent of all cases of neurologic genetic counseling, whereas Mendelian affections account for only 20 percent and epilepsies for 15 percent. They mainly include cases of hydrocephaly, anencephaly, spina bifida, and microcephaly, for which the recurrence risk is mostly empirical. Emphasis is laid on the present possibilities of prenatal detection of some of these malformations.

The development of a total of 58 triplets, quadruplets, and quintuplets, born in the province of Danzig in the years 1957-1971, is analysed. The examinations show that the physical development of multiplets in the first year of age is similar to that of singletons, irrespective of their social conditions. In the second year of age, however, multiplets with bad social conditions showed a much worse rate of development.

Only half of the 56 children examined by a psychologist reached IQ norms, the others being on the verge of normalcy and mental deficiency, or even lower. Out of 30 school-age children, 16 had difficulties in learning and 15 of these showed features of mental development deficiency.

Vinblastine (VLB) and vincristine (VCR) are two alkaloids (extracted from the plant Catahranthus roseus) which possess a definite antitumor activity. The antitumor activity. The antimitotic action of these two alkaloids was studied both on normal bone marrow and leukemic cells. Comparative studies showed that they are, like colchicine, spindle poisons. They, however, differ from colchicine and its derivatives in some of their biological activities.

The problem of the relationship between antitumor and antimitotic activity of VLB and VCR is discussed.

Report of 44 cases of rheumatic heart disease with genetics observations of transmittance of rheumatic fever and cardiovascular diseases and discussion about the relation betwen the two diseases.