A study of 30 families, belonging to a 290 individuals pedigree, showes that the epithelioma adenoides cysticum is genetically influenced by an autosamal dominant factor. But, owing to penetrance differences between sexes, apparently the disease is irregularly transmitted.

The Autors have begun a genetic research on the ovarian cancer. In this first part of the work:

1. it has been defined the group of the “ primary cases ” in which have been included 74 cases of solid carcinoma, 108 cases of cystic carcinoma and 93 cases of unclassified malignant tumor of the ovary.

2. it has been studied the age of appearance and the age incidence variation of the ovarian cancer, and it has been found that:

a) the mean age of appearance is 51,15 ± 0,64 years, but it lowers to 48,94 ± 0,68 years for the solid carcinoma and rises to 52,36 ± 0,90 years for the cystic carcinoma;

b) the period of the greatest frequency of the disease is between 40-60 years of age, followed by a sharp decrease over age 65;

3. it has been analysed the fertility of the patients, and it has ben recorded a decrease of the mean fertility up to 29% as compared to the general population;

4. it has been mentioned the importance of the hormonal factor as a problable condition for the development of the ovarian cancer, that nevertheless calls for other — likely idiotypic — factors.

1. Data relating to hypertrichosis of the ear rim, lobe, tragus and antitragus in the Pahira are presented.

2. It has been indicated that (a) hypertrichosis of the rim is associated with that of the lobe, tragus and antitragus, and both may be controlled by the same genotype; (b) it may not be a characteristic of the Mediterranean race alone; and (c) its use as an “anthropological marker” is of limited value.

A total of 71 pairs of like-sexed dizygotic twins were studied, comparing within-pair differences for plasma total, free and esterified cholesterol, and triglyceride with the number of HLA haplotypes the twins had in common. If associations are present between HLA and the blood lipids studied, the twins with no haplotypes in common would be expected to have the largest within-pair mean square, those with two in common the smallest, and those with one in common an intermediate value. No significant differences were found comparing within-pair mean squares for the variables studied.

The following paper is concerned with potential changes in the normal epigenetic process in a diploid individual, when a chromosome pair or segment is inherited from one parent only, instead of the expected biparental contribution. This aberrant mode of transmission arises from the high rate of gamete aneuploidy in humans. It has received the name uniparental disomy (UPD), and has emerged as an important factor in the new field of nontraditional inheritance, depicted in Table 1.

The following definitions may foster a better understanding of this discussion.

UPD is the inheritance of both copies of a chromosome [or chromosomal segment(s)] from a single parent, instead of the normal biparental transmission of the pair. In isodisomy, the two uniparental copies are identical, being derived from the same parental chromosome. In heterodisomy, the two uniparental chromosomes are different, being derived from the homologues of a pair.

Chromosomal evaluation was done in 62 patients affected with otosclerosis, clinically and surgically proven. Numerical and structural karyotype analysis of leucocyte and fibroblast cultures, showed normal results.

Cytogenetic findings published earlier by other authors in a small series of otosclerosis patients and where mosaicism in the D-group was detected, are contradicted.

The importance of the critical evaluation of the cytogenetic method used and of the necessity to investigate cytogenetically a large enough number of patients, before linking a clinical and phenotypical condition to cytogenetic finding, is stressed.

The behavior of 120 full term and 160 preterm newborn twins was assessed in several key areas: Irritability, soothability, reactivity, reinforcement value, and activity level. Infants were assessed during various situations so that aggregate, or summary, scores representing each behavioral area could be obtained. Evaluations were made during a feeding period, an active sleep period, an awake alert period during which orienting and interactional behaviors were observed, a quiet period during which reactivity to stress was observed, and any fussy periods during which irritability and soothability were assessed. Significant within-twin-pair concordance of behavior was obtained for each of the areas of behavior, suggesting the influence of constitutional variables on neonatal behavior. Analysis of these data by sex resulted in significant within-pair concordance of behavior for same-sex but not for opposite-sex twins. The actual ratings on these behaviors differentiated between full term and preterm infants. Increased behavioral deviance was observed with increasing prematurity in the areas of soothability and activity level. The results are discussed in terms of increased risk factors for preterm twins.

The karyotype has been analysed of two subjects with mandibulofacial dysostosis (Franceschetti's syndrome), considering that the main anomalies of this condition are also present in other malformations for which the association with particular genomic or chromosomal aberrations has been demonstrated.

In both subjects, the karyotype was normal.

The comparison of the clinical and cytogenetic data of this malformation with those of others (trisomy-D1 syndrome, trisomy-18 syndrome, deletion-18 syndrome) provides further evidence of the complexity of the genie systems controlling the processes of individuation during embryonic development, and of their interferences. However, this also shows how difficult it is to obtain human chromosome maps through the study of the macroscopic phenotypic characteristics of certain chromosomal anomalies.

The statistical data on the malformation occurred in Italy from 1956 to 1958 have been examined. It has been seen that their number is almost constant (i. e. some 1,500 per year). The ratio of alive malformed to dead malformed is of 3:1, but the number of deaths by congenital malformations increases considerably during the first year of life, mostly due to inner organ malformations, non detectable at birth.

50% of the cases of harelip die during the first year of life. The most serious malformations are those concerning the central nervous system, while the most common ones, are those affecting the locomotive apparatus.

The number of malformations has not been influenced by the very insufficient diet during the four years of war, neither by the 1957 « asiatic influenza ». The malformation index, furthermore, appears almost constant in the time and in the various regions, showing the highest figure in Lucania and Friuli (3.05) and the lowest ones in Campania (0,89), Sicily and Liguria (1.21).

Several studies have appeared in the literature to support the hypothesis of a differential incidence of twin births according to the antigenic structure of maternal erythrocytes (Gedda, 1961).

Osborne and DeGeorge (1957) wrote that twin births exhibit a higher incidence when mothers belong to group O, as compared to other groups within the ABO system; a similarly increased incidence of twin births was indicated for rh-negative mothers within the Rh-Hr system.

The availability of a large number of immunohematological data concerning twin pairs and nontwin individuals examined in our Institute have encouraged us to verify whether this material could reveal some a posteriori effect of the selective tendencies that have been related to the parental level.

Limiting our study in this phase to the ABO system, we have collected data on 1190 twin individuals and 1454 nontwin individuals, for all of whom the ABO blood group had been recorded.

The first step in our analysis was the perequation of the nontwin distribution to the twin distribution, obtaining the figures reported in the column “controls” in Tab. I.

The clinical findings in a group of syndromes in which tapetoretinal degenerations are associated with systemic lipid disorders are described. This group includes abetalipoproteinemia (the syndrome of Bassen and Kornzweig), Refsum's syndrome, Neuronal Ceroid Lipofuscinosis, and Cockayne's syndrome. AII four are transmitted by single autosomal recessive genes. The pathological findings are discussed. If diagnosed early enough, abetalipoproteinemia should be treated by administration of vitamin A, and Refsum's syndrome by restriction of intake of phytanic acid and phytol.

In order to contribute to the studies on the group substance properties of the Gm system, the Authors have carried out a research on 180 subjects living in Latium. The results [Gm(a) 48.8%; Gm(b) 95%; Gm(x) 9.4%], are very similar to those obtained for white subjects in other countries of Europe and North America.

The Authors underline the importance of this new system in the investigations for ascertaining the parental relationship.

In a series of 114 twin pregnancies followed in the course of 12 years (1961-1972) we noted the favourable effect of specialised preventive care. More exact diagnostics (ultrasound scanner) shifted the recovery of twins from the 35th to the 30th week of pregnancy. Due to the therapeutic and preventive bed rest and to the systematic use of orciprenalin, the duration of pregnancy has been prolonged from 36 to 38.5 weeks on the average. The perinatal mortality in twin deliveries decreased from 14.4 to 5%.

Chromosomal aneuploidy in individuals is very frequent, and is generally a sporadic occurrence. Some aneuploidies seem to be familial, however; that is, parents may have more than one aneuploid child, or they may come from families in which an agglomeration of aneuploidies is distributed over several generations. Since, in such instances, parents often seek eugenic counsel to learn their chances of having aneuploid children, four types of familial aneuploidy and their recurrence risks are described. Special emphasis is given to the more important types of familial interchange, for which the recurrence risks can be calculated with fair accuracy. Familial mosaicism, a rare and puzzling genetic entity with which aneuploidy seems definitely correlated, is discussed.

A total of 400 DZ and 76 MZ twin pairs were studied for: maternal age, in which no significant differences were found; birth order, which was significantly higher in DZ twins; weight at birth; frequency of ABO blood-group phenotypes, where no significant differences were found; and, lastly, frequency of twinning in relatives, where, there was significantly higher occurrence, namely in siblings of probands.

Following previous formulations of a model of qualitative analysis of twin population data independent of zygosity, a new Bayesian approach has been developed. The present model can be applied to any qualitative genetic trait in twin population data, provided no specific source of variation be introduced by the twin condition, and allows not only estimation of the frequencies of mono- and dizygosity as well as the gene frequencies, but also verification of the trait's mode of inheritance.

Con il 1956 si apre il V volume della nostra Rivista e si compiono cinque anni da quando abbiamo pubblicato il libro « Studio dei Gemelli ». Una vasta famiglia di autori, ed una più vasta di lettori, si è raccolta attorno ad « Acta Geneticae Medicae et Gemellologiae » la quale, unitamente al libro, ha valso a rinfocolare l'attesa e l'impegno attorno agli studi gemellari, ed a raccogliere un materiale di cospicuo interesse.

Per sottolineare questa circostanza riprendiamo il profilo storico della gemellologia che abbiamo tracciato in un capitolo di « Studio dei Gemelli » per integrarlo con alcuni dati recentemente acquisiti, non senza notare che, in genere, questo assunto non coincide con quello di aggiornare il lettore con i progressi della gemellologia, perchè altra cosa è l'apporto scientifico, a cui attende periodicamente la Rivista, ed altra cosa l'elaborazione storica del pensiero scientifico.

Quest'ultima richiede, fra l'altro, una certa prospettiva nel tempo, cioè una distanza che consenta di attribuire ad ogni apporto il valore che effettivamente e definitivamente gli compete per accordarlo con le linee di sviluppo del pensiero scientifico.

The biometrical genetical method of analysis of continuously varying human traits is described and shown to unify a number of common approaches to the analysis of twin data. The method, which is based on the analysis of variance, goes beyond alternative approaches by providing tests of basic assumptions and by investigating the possibility of assortative mating and dominant gene action.

Twins form an indispensable group for the application of the biometrical genetical method but the value of including other groups, often more easily collected, is demonstrated.

The techniques are illustrated through the reanalysis of data on the behavioural measures, neuroticism and intelligence quotient (I.Q.). For both measures fundamental assumptions are met. The results suggest the absence of dominant gene action for neuroticism, indicating an evolutionary history of stabilising selection, and directional dominance for high I.Q., indicating an evolutionary history of strong directional selection. Both these findings seem reasonable in view of psychological knowledge concerning the two measures.