Cytogenetic studies were performed in six clinically typical cases of Turner's syndrome. In five of them an XO chromosome complement was observed. In the sixth case the chromosome number appeared normal, but karyotype analysis revealed the presence of three large metacentric chromosomes similar to No. 3. A diagnosis of presumptive isochromosome for the long arm of X was suggested by the autoradiographic evidence of late replication and by the presence of larger than normal Barr bodies and drumsticks.

An interdisciplinary study, in adult twins and their family members, of the genetic and environmental determinants of complex physiologic functions is in progress. This report summarizes our initial studies of the control of the level of systolic (K1) and diastolic (K5) blood pressure in 202 monogygotic (MZ) and 121 dizygotic (DZ) twins, their spouses and their children. Correlation coefficients for blood pressure were adjusted for the covariates age, sex, body mass index (wt/ht2) and screener, all of which significantly augment most correlations. These adjusted correlation coefficients in MZ twins are 0.5 for both K1 and K5 blood pressure. For DZ twins, the adjusted correlation coefficients are 0.21 (K1) and 0.24 (K5). MZ twin-offspring adjusted correlation coefficients are higher than MZ twin-niece/nephew adjusted correlation coefficients (0.12 and 0.06, respectively, for K1; 0.20 and 0.13, respectively, for K5), despite the genetic identity of these relationships. That environmental factors may explain these differences is suggested by other differences in adjusted correlation coefficients that are greater than those predicted by the degree of genetic similarity. In addition, we have assessed the relationship between two biochemical-physiological processes, the urinary excretion of kallikrein and transport of sodium in the erythrocyte (the sodium countertransport and the sodium-potassium-chloride cotransport systems), and blood pressure control, since both have been implicated in the control of blood pressure level. Although we found evidence for substantial genetic control of both phenomena, we were unable to establish any correlation between either function and the level of blood pressure in our normotensive subjects.

These data point to the operation of three broad categories of control of level of blood pressure: constitutional factors (age, sex, body mass), genetic factors and environmental factors. The identities of the genetic and environmental factors are unknown at this time.

No matter what our everyday activity in the mental health field, we can say with conviction that the function of a new superspecialty such as Psychiatric Genetics, the subject of this late-morning session, is profoundly influenced by contemporary cultural, social and political conditions as well as by the never-ending challenge of scientific conquests. Evidently, therefore, any attempt to formulate a concise and generally acceptable definition of such a modern hybrid discipline is no less difficult than it is to work in it. Actually, since the two parental sciences deal with equally absorbing, intricate and still rather speculative aspects of human existence and health, it would make little difference here if the given definition were developed within the framework of psychiatry or that of human genetics. What is certain only is the empirical observation that there are very few workers in this particular field of superspecialization, who are not prematurely grey or otherwise debilitated.

In order to facilitate a fruitful discussion despite these considerable difficulties, it may be advisable to use a description of psychiatry and its various schools of psychotherapy, which is plain in its formulation and is focused on appropriate medical concepts and techniques from a professional standpoint. This selective procedure is justified, since in many recent conferences on the functions of clinical psychiatry, increasing emphasis has been placed on two general professional requirements. One of them is that psychiatry should never be “a field apart from other areas of scientific discourse”. The other criterion is that a psychiatrist be “a good physician first and always… capable of acting as the trustworthy friend, the wise counsellor, and the discreet and skillful servant” of people in distress.

A total of 58 dermatoglyphic characters, consisting of topologically significant pattern elements, i.e., loops and triradii, on palms, soles and fingertips, were tested in a sample of 110 MZ and 111 like-sexed DZ twin pairs. The analysis included homolateral, heterolateral and bilateral concordance rates, the derived Hecoefficient, coefficients of the within-pair association, Φ, derived χ2 intraclass correlation coefficients and heritability estimates based on variances (h2) and correlations (Hr), and the variance ratio F.

A considerable difference was found in respect of “heritability” values between palmar and sole patterns, in that they are the highest for sole loops and triradii and the lowest for most palmar loops. These data are compared with the h2 values obtained from family correlations.

The difficulties in the interpretation of “heritability” estimates based on the material of twins are pointed out and particular attention is drawn to a possibility of the additional bias in twin studies related to a degree of symmetry of the characters investigated.

The antenatal management and outcome of 31 higher-order multiple gestations, 24 triplets, six quadruplets, and one set of quintuplets were analyzed. Bedrest was advised as soon as the diagnosis was made; hospitalization along with the administration of betamethasone and phenobarbital was begun during the second trimester. Caesarian section was performed on 13 women (42%). The overall mortality rate was 14.8%; excluding neonates less than 28 weeks of age, however, it became 7.5%. The primary cause of death was respiratory distress syndrome.

1. There is probably no special hereditary disposition for the localisation of the tuberculosis at the skin.

2. The partial selection of the hitherto made casuistics of twins explains the contradiction to the literature.

3. The general tuberculosis is in the sense of Diehl and v. Verschuer preponderating concordant by monozygotics twins and discordant by bizygotics twins.

The incidence and evolution of patent ductus arteriosus (PDA) was evaluated in twins and preterm singletons with birth weight ≤ 1750 g admitted to our Department in 1987 for respiratory distress syndrome (RDS). Screening by echocardiography and Doppler-flow studies (AT MK 600) was performed on the third day of life. Out of 91 neonates who needed intubation and ventilation during this 12-month period (23.8% of admissions), 40 weighed less than 1750 g and of these 40, 14 were twins (35%). Hemodynamically significant PDA was documented in 13 patients; of these, only 5 were preterm singletons and 8 were twins. Two twins weighing < 1000 g received no therapy for ductus closure; one ductus closed spontaneously, the other had an early demise. Three twins and 2 preterm singletons received indomethacin; one of the twins needed a second cycle for definitive ductus closure. Three twins and three preterm singletons underwent surgery, while one twin died on the 10th postoperative day. Screening and early therapy of PDA during RDS could be of great clinical importance. Twinning seems to play a role in the incidence and evolution of PDA and this needs to be evaluated in further studies.

The Authors studied the leukocyte alkaline phosphatase (LAP) activity in 40 subjects with Down's syndrome. The age of the patients ranged from one week to 15 years. Chromosome analysis was carried out in 13 cases. 42 normal children of the same age as the patients were used as controls. The mean value of LAP in the patients with Down's syndrome was 175.5 and in the control group 108.8. In the latter group the LAP activity was clearly influenced by the age; the highest values were obtained in children under 11 years of age. The regression coefficient of the LAP on the age in the control group was –3.73. In the patients with Down's syndrome the differences observed between the various age groups were not statistically significant.

Chromosome studies showed a 21 trisomy in 12 cases; in one case a 15/21 translocation was found. The latter case presented an elevated LAP activity.

The Authors support the hypothesis that the gene or genes controlling LAP activity are located in the 21 chromosome and that the LAP activity may vary under the influence of several factors within the limits of the genetic control.

On the basis of the parameters of gene stability suggested by Gedda-Brenci's model on the Ergon/Chronon System, a mathematical and a stochastic model of gene decay are worked out.

We researched a total number of 3974 persons for the frequency of simian lines and all the material is based on 375 monozygotic, 360 dizygotic, 226 twins of different sex and 2045 single persons of two groups of the population. We classified the material collected into three degrees of impress of the simian line: a little form « 3 », a middle form « 2 » and the classical simian line, called form « 1 ». The form « 3 », which was more frequent to be seen than the form « 1 » and « 2 » seems to contain characteristics of « accidental » genesis without any relation to classical simian lines. That was to be found especially in the case that the little form was only on the surface of one hand. In contrast to that the form on both hands allows the deduction, that there must exist a relation to simian lines. The relations between the forms « 1 » and « 2 » are more evident than these of the little form « 3 ».

The classical simian line seems to be more frequent on the left hand and with the male sex than on the right hand and with the female sex. This picture is a counterpart to the behaviour of thenar patterns.

The result of the average population ist applicable to twins, too. Furthermore it was possible to show by arithmetic, that the concordant reactions of the monozygotics and the discordant reactions of the dizygotics are based on the hereditary character of simian lines and their transitional forms. There is a remarcable difference between monozygotic and dizygotic which is caused by the fact, that discordance of monozygotic is to be found in the case that one partner is one-sided affected with. Moreover the discordant forms become less frequent, if the degree of impress increases. The dizygotics are in the inverse ratio.

The absolute concordance, too, that means the same degree of impress on the same hands of both partners, is more frequently to be found in the case of monozygotic than in the case of dizygotic.

The authors have examined 30 children from triplet pregnancies aged 18 months to 16.5 years. The group included 20 girls and 10 boys. Triplet pregnancy was found to be, in the average, the fourth consecutive pregnancy in mothers. Physical and mental development was assessed. It was found that 60% of children showed a physical development below the appropriate norm for their age. In 83% of the children under examination mental age ranged below chronological age.

A description is made of a Brazilian family of white ancestry in which five individuals presented the fibrous dysplasia of the jaws known as cherubism. The information obtained involves seven generations in a total of 75 individuals. 23 of these were examined by the authors and a report about a deceased person was confirmed by photograph. The affection in this family is probably conditioned by an autosomal dominant gene with variable expressivity.

Nelle ricerche sulla gemellazione la madre dei gemelli è la candidata, ma il carattere ereditario si manifesta nella generazione successiva.

Partendo da considerazioni probabilmente diverse, molto studio è stato dedicato direttamente alla candidata, ai suoi caratteri fisici e fisiologici. La generazione successiva è stata invece alquanto trascurata, sicché, quando abbiamo voluto considerare l'andamento del peso alla nascita dei fratelli di gemelli, non ci è stato possibile rin-tracciare precedenti bibliografici.

Il peso alia nascita è sotto l'influenza di innumerevoli fattori ed ovviamente non è un carattere ereditario. Ma, se la gemellazione è provocata da un sistema ormonico controllato dal genotipo, è probabile che questo sistema agisca anche sul peso alla nascita dei fratelli di gemelli.

The incidence of pterygium was studied in an isolated highly inbred fisher population. A clinical and hematological examination was performed and the blood chemistry was studied. Genealogical tables (pedigrees) were prepared for all probands and the degree of consanguinity in their parents stated. Of the total of 479 subjects studied by random sampling, 19 (4 per cent) had pterygium with a relatively high manifestation age. No linkage was detected between the genes for the blood group systems, serum groups etc. and the gene for pterygium. Increased capillary fragility was established in 10 probands. Capillary permeability was studied in 2 probands by the concentration in the anterior chamber of intravenously administrated fluorescein, and the test was found to be weakly pathological in one of them. The serum cholesterol level was elevated in 5 of the patients studied. Ophthalmological examination indicated the accumulation of degenerative eye diseases. Pingueculum showed a more pronounced development in 10 of the 17 subjects examined than in the rest of the population. The possibility of recessive transmission of the hereditary predisposition is discussed with reference to the high frequency of inbreeding and the accumulation of pterygium within the isolated population. According to the special frequency-raising peristasis conditions in an outer archipelago community and to the mendelian segregation rate, a not sex-linked, simple dominant gene, with low penetrance and no selective disadvantage for the pterygium seems to be the most plausible explanation. Because of the late manifestation age, pterygium was observed only in 2 generations. The expressiveness of the gene was unsteady and asymmetry of pterygium in the eyes of the probands is not uncommon.

The suitability and reliability of the Rh-Antigens is being discussed in details in the light of a great number of forensic serologic tests carried out in our Institute in cases of discussed parentage (859 contracting parties, 1251 males involved).

The frequency of paternity exclusions observed does greatly conform with the frequency expected. Differences noted are either very small or are in the range of standard deviation.

Authors emphasize that it is necessary to repeat the test especially if a criminal case is concerned or if an accused father can be excluded.

Im folgenden soil über die Ergebnisse von systematischen Familienuntersuchungen berichtet werden, die ich bei unausgelesenen totgeborenen und im ersten Lebenshalbjahr verstorbenen Kindern mit letalen Anomalien der Körperform durchführen konnte.

Der Begriff « Anomalien der Körperform » wird dabei im Sinne meines Lehrers v. Verschuer für typische, oft erbliche Missbildungen einschliesslich Kombinationsmissbildungen mit Veränderung der äusseren Körperform gebraucht, die ich als Todesursache unter den in den Jahren 1937-39 im Pathologischen Institut der Universität Frankfurt-Main erfolgten Sektionen finden konnte. Eine statistische Auswertung der Gesamttodesursachen war bereits früher erfolgt (1942).

In einer umfangreichen Monographic « Familienuntersuchungen bei missbildeten Totgeborenen und Frühverstorbenen » sollten die im folgenden zu besprechenden Befunde zusammen mit anderen letalen Missbildungen (Herzmissbildungen, letalen Hernien, Ektopien, Missbildungen des Magen-Darmkanals, der Haut und der blutbildenden Organe sowie auch Mongolismus) Anfang 1945 als Ergänzungsband der Zeitschrift für menschliche Vererbungs- und Konstitutionslehre erscheinen. Leider ist die bereits ausgedruckte, fertige Arbeit am Ende des letzten Krieges der Zerstörung von Würzburg zum Opfer gefallen. Bei den gegenwärtig beschränkten Druckmöglichkeiten in Deutschland habe ich unter dem Titel « Frühletale Missbildungen und Hereditat » bisher lediglich ein kurzes Referat der Arbeit geben konnen. Für das grosszügige Angebot von Herrn Prof. Dr. L. Gedda, einen Teil der Arbeit in die Acta geneticae medicae et gemellologiae aufzunehmen, möchte ich deshalb meinen ganz besonderen Dank aussprechen.

Analysis of the multiple correlations in body height within a sample of 117 monozygotic twin pairs and their spouses confirmed the existence of a high degree of assortative mating. However, the data also revealed an underlying asymmetry in the mate selection process. With respect to height, male twins were more selective than were members of female pairs, and among male twin pairs, those who were intermediate in height appeared to make the greatest contribution to the observed pattern of nonrandom mating. Because of their magnitude and potential asymmetry, the effects of phenotypic correlations between the spouses of related individuals must be correctly specified in any rigorous quantitative genetic analysis that extends beyond the nuclear family unit.

The authors report three cases of enlargement in length of the short arm of a G chromosome: in a mother and her trisomy 21 son, and in a child with congenital glaucoma and systemic malformations. They discuss the nature of this odd chromosome. The latter can represent altered chromosomal behavior of anomalous coiling, but it is quite possible that it represents a translocation. The authors observed another case of congenital glaucoma with short arm enlargement in a G chromosome.

Hypertrichosis pinnae auris, Darwin's point and tubercle, and muscle Palmaris Longus have been examined in 425 adult subjects from two endogamous groups of Patiala, Hindu Khatris (230) and Baniyas (195). No significant differences between the two groups were found for any of the three traits.

A 38-year-old woman, gravida 5, para 3, with a triplet prgnancy discordant for anencephaly, is reported. The diagnosis was made prenatally by ultrasound. Autopsy of the anencephalic member revealed small adrenal glands with absent fetal cortex, and a coincidental tetralogy of Fallot. Studies of the histocompatible lymphocyte antigens of both parents were performed and they failed to demonstrate HLA B-27. The literature on anencephaly in triplets is summarized. The association of congenital heart disease and HLA B-27 with anencephaly is discussed.