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.

It is immediately apparent, that the difficulties encountered in studies of the genetics of the mind are formidable, for several reasons. In the first place, the traits concerned are difficult or impossible to classify or to measure with accuracy. In the second place, they may be unstable towards environmental influence; and they vary with age, or exhibit periodic changes.

It is therefore not surprising that our understanding of genetic mechanisms is limited in those conditions where analysis has been carried out merely on the basis of the mental traits.

The situation is strikingly different in the conditions where an association has been found between a mental trait and some clearly recognisable physical or biochemical trait. As we all know, in several such cases an exact genetic analysis in Mendelian terms has been found possible, for instance in the amaurotic idiocies and phenylketonuria.

With the introduction of obligatory registration of twins in Budapest on 1 January 1970, our team started the genetic and somatopsychic examination of twins. The program is being carried out in collaboration with the institutions of the Child Health Care Organisation of Budapest and the National Institute of Public Health.

Since 1 January 1970, the placentae of twins born in Budapest are submitted to pathologic and histologic examination, and the twins living in Budapest are examined systematically by our clinical group at the age of six months, and one, two, and three years.

In addition to studying the social environment, examinations are carried out with regard to pediatrics, anthropometric measurements, photographic documentation, dental examination, dermatoglyphics, cardiology, and neuropsychiatry. In order to define the genotype of the twins we used haptoglobins and blood groups.

Mean MZ and DZ twinning rates in seven big Greek cities were 3.2 and 4.75 per 1,000 maternities, respectively, during the 1980-1985 period. The seasonal variations in twinning frequencies are not significant. The total twinning rate in Greece shows a decreasing trend from 1956 to 1985.

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).

Report of 2 pedigrees during 4 and 3 generations respectively, whose members have been investigated by the author personally with the splitlamp. In addition to these pedigrees some more smaller families were examined and compared with communications from the literature. All this leads to the assumption that the lacunar type of irisstructure with its irregular and more peripherically situated irisfrill, as a result of increased reabsorption of the iridopupillary membrane, is an autosomal trait, which behaves like a single dominant. The iris with a more continuous boundery layer and an irisfrill which is situated nearer to the pupil is recessive. It will be necessary in future to settle the genetic background of the subtypes of both contrasttypes, mentioned above.

The Author reports two MZ twin pairs, one of 11 years old females and one of 18 years old males, only one twin in each pair being affected by severe cardiac failure. In both cases the cranial radiograph of the hyposystolic twin, compared with that of the co-twin, revealed the existence of cereblar stasis.

The Author also reports on two female MZ pairs of developmental age, each with one cardiopathic twin. In both cases the affected twin revealed a retarded body development and, in one pair, also retarded puberty.

The Author stresses how the twin study method is helpful in clinical as well as genetical research, thus reasserting its validity.

An attempt has been made to apply Payami's models to maternal age-specific twin birth prevalences in several countries. The models disclose the heterogeneity of a cohort and spell out the risks to susceptible members (who will actually get the disease) according to age (or time). Payami's method specifies that the typical cohort of susceptibles is ascribed to two exposures: a potent and generalised exposure and a very low or no risk secondary exposure. The models have been adjusted to international data from current as well as old populations, of Occidental and Japanese origin. Results show that cohorts of twin-prone mothers aged 25 to 45 are homogeneous. A single dominant etiology is suggested which applies to both MZ and DZ twins. Heterogeneity, from 10% to 25%, is present in all countries whenever the 20-24 age group is involved. A separate study of illegitimate twin births from Denmark reduces the heterogeneity and shows that MZ illegitimate twin births are due to a secondary exposure responsible for a distinct twinning etiology. The age-specific risks of a MZ illegitimate twin birth are much higher than those of any comparison group, and are constant until age 35 years. This suggests a single-hit exposure akin to a neuroendocrine stimulus which short-cuts the usual age-dependent etiologic pathway. MZ and DZ twins both experience the same maternal age specific risks, an observation which underscores the common etiology of both types of twins. Risks increase with age from age 20 to 45 years. The pattern according to age varies among countries and time periods. Occidental populations have a pattern varying from an exponential to a more linear increase in old and recent populations, respectively. Only present-day Japan displays a logarithmic-like growth curve. The concept of “reproductive maturity” is introduced, and related to the secular trend of the DZ twin birth risk and to its variation across countries. Two new conclusions are drawn: a) The higher the rate of reproductive maturity, the less the DZ twin birth risk and, b) Reproductive maturity determines the maternal age-specific gonadotropin levels.

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.

Within the “Wrocław Longitudinal Twin Study” in a part of the material the liking level of singletons (SIN) to identical twins (TMZ) and of TMZ to SIN was analysed cross-sectionally, in the period of 11th to 18th year of life. In each of the 76 classes of elementary and high schools in Wrocław (Poland), including the investigated in 1976-7 TMZ (64 pairs), were evaluated the relations between school-mates, using the Korczak's five-degree scale of liking. The declared by TMZ and SIN liking decreased with age between pupils of the same sex, and increased between pupils of opposite sex, however, in TMZ with some delay. The liking declared by TMZ of both sexes to SIN was on average lower than that declared by SIN to TMZ. The degree of liking declared by SIN to TMZ of the same sex was average higher than in relation of SIN to SIN particularly among girls. Thus, there occurred the so-called “prima donna effect”. The liking declared to pupils of opposite sex in relation of SIN to TMZ was on average lower than the analogous one in relation of SIN to SIN and in relation TMZ to SIN even worse. The higher contrast in treating pupils of the same and opposite sex in TMZ than in SIN indicates a lower social maturity in TMZ. A diverse influence of socio-economic conditions on the declared toward then liking by boys and girls was found. The low number of separated twins did not allow to make a generalisation on specificity of their position in class. The sending of TMZ to different classes appeared to be in Wrocław elementary schools sporadic (1 repeater), and in high schools observed in 38%, from that 28% of twins went to equivalent classes, usually in different school, and in 10% of pairs one of the twins repeated the class.

A case of persistent pupillary membrane observed in a mother and in her two monozygotic female twins is reported. The literature on this subject is reviewed.

Desideriamo fare il punto di una ricerca intorno ad alcuni aspetti dell'anestesiologia che possono interessare la genetica, ricerca che abbiamo in corso da oltre un anno e che ci permette di formulare alcune prime considerazioni di carattere generale.

Presentando gli atti di un « Symposium » intorno agli effetti prodotti dai farmaci sul comportamento dell'uomo e degli animali, H. H. Pennes osserva testualmente: « As a modern science, psychopharmacology is still in its infancy despite the race has been exposing it self to drugs with mental actions since antiquity. The infant is now being increasingly nurtured by its related disciplines-biochemistry, physiology, pharmacology, psycology and psychiatry ».

Sembra un po' strano che H. H. Pennes non abbia ravvisato, fra le discipline che possono alimentare la psicofarmacologia in questo suo periodo d'infanzia, anche la scienza dell'eredità, cioè la genetica. Infatti è perlomeno pensabile che, essendo molte le funzioni mentali tributarie dell'eredità, come le ricerche genealogiche, gemellari e raziali dimostrano, anche la reazione a dei farmaci anestetizzanti e psicotropi possa presentare delle costanti geneticamente controllate.

Dupuytren's disease recurs more frequently than generally assumed. 24 typical family trees derived from the literature are analyzed here.

The main conclusions that can be derived are the following:

1) Monogenic heredity is confirmed.

2) The sex ratio in the affected families is 61,2 m: 38,8 f.

3) The sex ratio in unaffected families is 38 m: 43 f.

4) The expressivity of the disease is variable. Penetrance, which is incomplete, varies according to the sex. In our selected material, the penetrance rate is 93,6% in the males and 42,9% in the females.

5) Males transmit the gene in 68% of the cases; females in 32%.

6) Incomplete sex linkage can be excluded.

7) A comparison is made between the really observed values and the theoretical rates for normal and affected men and women for the chance of an auto-somatic dominance. These observations make possible the conclusion that the number of affected females is too low as compared with unaffected females and affected males.

8) A new theory is suggested concerning the mechanism of heredity based on the different statistical values. The responsible factor would be deadly for 60% of the XX affected zygotes. But 60% of the affected X gametes produced by the mother, being identified by an essential incompatibility for the unaffected X spermatozoid, would be electively fecundated by a Y gamate. This machanism would explain the excess of affected males, the small proportion of affected females and the sex-ratio of 61,2: 38,8.

The concordance between the observed values and the theoretically expected values of such a kind seem to convalidate our new theory.

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

Three families from Calabria, whose members were related to each other have been studied. In the first there were both the thalas-semic and the drepanocytic traits separately in its members; in the second the thalassemic trait and in the third the drepanocytic trait. From the marriage of individuals with thalassemic trait from the first and the second family a child was born with Cooley's disease, from the marriage of drepanocytic individuals from the first and the third family a drepanocytic girl was born.

The clinical, hematologic and genetic characteristics of the 19 members of these families are reported and the distribution of the pathologic features is discussed.

It was on June 25, 1943 that the world lost a great mind and a great medical scientist, when Dr. Karl Landsteiner succumbed to the effects of a heart attack that had overtaken him two days before while he was actively at work in his laboratory. He had just passed his seventy-fifth birthday of a lifetime devoted to fundamental research. Shortly before his death he had completed the second edition of his classic book, “The Specificity of Serological Reactions”, and he had also published almost 350 scientific papers describing the results of his pioneering investigations. This year is the centenary of the birth of Karl Landsteiner, and it seems fitting at this time to pay tribute to this genius and benefactor of mankind by reviewing some of his great discoveries.

Of Dr. Landsteiner's discoveries, the one that has captivated the popular imagination the most is his discovery of the A-B-O blood groups, frequently called the Landsteiner blood groups in his honor. At the beginning of the present century, it was recognized that bloods from animals of different species could be distinguished from one another by their serological reactions. For this reason, the use of animal blood for transfusions to human beings was abandoned, but the frequent serious reactions that followed transfusions of blood from one human being to another still remained unexplained. Landsteiner then tested the blood of workers in his laboratory by mixing serum taken from one individual with the red cells of others. He found that instead of the weak or negative reactions that might have been expected, in some combinations strong agglutination of the red cells occurred, while in other combinations no effect was apparent.

In order to evaluate the influence of birth order and fetal presentation on antenatal growth of twins we conducted a comparison of prospective measurements of five fetal biometric indices in 50 vertex-vertex and 47 vertex-breech twins. We compared (a) twin A to twin B in both groups; (b) the second and (c) the first twins of both groups. Both groups had similar maternal and neonatal characteristics. The growth curves of the twins were also very similar except for three significant (p<0.05) deviations: (a) Twin A of the vertex-vertex group, had larger femur length (FL) at 18-19 weeks, abdominal circumference (AC) and estimated fetal weight (EFW) at 29 weeks, and EFW measurements at 36 weeks, (b) Second breech twins, compared to their second vertex cohorts, had significantly smaller biparietal diameter (BPD), head circumference (HC) and FL at 18-19 weeks, BPD and HC at 29 weeks, and EFW at 37 weeks, (c) First twins of the vertex-breech group, as compared to first twins of the vertex-vertex group, had significantly smaller BPD and AC at 18-19 weeks, FL and AC at 21-22 and 29 weeks, FL at 31 weeks, and EFW at 27-28 and 36 weeks' gestation. We concluded that significantly different sonographic fetal indices may be measured at about 20 and 30 weeks' gestation, but not later. An adaptive mechanism attributed to fetal presentation is suggested to explain similar birthweights in spite of these antepartum differences.