Three pairs of male twins concordant for muscular dystrophy are presented. Two of these pairs are shown to be monozygotic and affected with the Duchenne form of muscular dystrophy. The third pair is probably dizygotic. The clinical and genetical features of each pair of twins are discussed. Pedigrees with photographs of the twins are presented.

The Authors studied 60 individuals bearing a positive test of sickle shaped cells (40 healthy bearers and 20 sick people).

Drepanocytosis besides causing a Splenomegalic haemolitic disease in an homozygous state can also cause it in pure heterozygous individuals of high expressivity. Thalassodrepanocytosis due to a more frequent occurrence of thalassemia is found with a greater occurrence than sickle cell anaemia in Sicily.

A patient showed a Salmonella osteomyelitis and two more a syndrome of acute abdomen due to a splenic occlusion.

The study of myelograms showed in all the patients (drepanocytosis, thalassodrepanocytosis) a clear erythroblast hyperplasia.

A cytometric study of the different aspects of the erythron was carried out.

The study of Hb composition made through paper electrophoresis and the amount of alkali resistent Hb showed in the patients bearing sickle cell anaemia the presence of a unique band with the speed of Hb S and the coexistence of different amounts of Hb Ar (normal values to 33,6%observed in a pure etherozygous). Quantities of Hb Ar above the norm where always observed in thalassodrepanocytosis, but the electrophoretic finding, due to the coexistence of Hb A, ran from the shaded unique band to two distinct bands.

The Authors report detailed observations on a set of triplets analyzed by means of the Rorschach test as well as by Buck's drawing test. The findings prove the importance of this research in pointing out — with more detail than by current clinical methods — the original traits of the mind of each individual in this set of triplets.

The genetic aspect of tubercular diseases has been studied for a long time, using the genealogical method, which had forerunners even in the field of narrative, where some Authors, such as Emile Zola, described families in which there was a high frequency of tuberculosis. Then, many Authors gave scientific descriptions of genealogical trees largely stricken by this disease, demonstrating the necessity of stating this problem: Although tuberculosis is originated by a microbe, it can also derive from a particularly receptive, inherited ground. The statistical research, in the hands of Person, Govaerts, Pearl, Ickert and Benze, Geissler and others, indicated that the question was legitimate and that the answer must be positive, because the probability of being affected by tuberculosis is four times higher when the parents, instead of being healthy, both have the disease; because among the ascendants of tuberculous people one finds six times more affected individuals than among those of healthy subjects; and for other similar reasons.

Then, the twin method, used by v. Verschuer, Diehl and Mittschrich, Kallmann and Reisner, by Heilinger and Kunsch, by Vaccarezza and Dutrey, by Kallmann and Jarvik and by others, emphasized the hereditary factor in tubercular diseases.

The Author reports on genetic problems of blood coagulation. Recent haematological reports on haemophilia, as for instance the differentiation of haemophilia into two different types (haemophilia A and B) bring up the question of the interrelations lig between the two genes responsible for the two types. The problem of recognizing female carriers is mentioned as well as the question of existence of female hemoghilian. It is pointed to further recent haemorrhagic diathese of genetic importance, PTA deficiency as well as the Hageman factor deficiency. Comprehensive investigations of factor VII deficiency on families, in Switzerland are of special genetic interest. These investigations have shown, that in those families, patients with complete deficiency of these factors are found, as well as members of the family not showing any haemorrhagic tendency being in complete health, but a quantitative deficiency of factor VII or Stuart-Power factor can be proved. A third group of members of these families is known to be healthy, showing a normal level of these coagulation factors. Healthy persons with a certain deficiency of factor VII or Stuart-Power factor can be regarded as heterozygotes.

The study of three sibships has demostrated that Madelung's deformity is transmitted by dominant monomerous hereditary character with variable expressivity mosty sexcontrolled.

A method for the preliminary analysis of a maximal number of urinary amino acids has been devised, which is based on preliminary ‘purification’ and desalting of each specimen prior to its subjection to two-dimensional paper chromatography. Aliquots of processed and concentrated specimens are standardized to quantities of alpha-amino acid nitrogen as determined colorimetrically.

Densitometric index values were analyzed for sex differences and for intrapair differences comparing genetically related and unrelated pairs. Significant sex differences were observed for five substances. Significant deviations between intrapair differences of genetically-related and control pairs were observed for ten substances. The results are compatible with the hypothesis that quantitative differences in the respective excretions involve genetic factors.

According to recommendations in radiation and mutation genetics, made in 1956 at the Copenhagen Meeting of a study group of the World Health Organization, a registration of hereditary traits and clinical syndromes is being carried out within the District of Münster, Province of Westfalia (Germany) since 1957. One of the pathological conditions included in this research program is microcephaly investigated from a clinical as well as from a genetic stand-point. The preliminary results of our study on microcephaly in man are given in this report.

During the World Twin Congress held at Eindhoven (Netherlands) in 1957 we tested 70 pairs of identical twins for their ability to taste para-ethoxyphenylthiocarbamide (EPTC). In 2 pairs a clear intra-pair discrepancy of taste was encountered. The tests with these 2 pairs were continued weekly for about six months. The result was always the same. One member of the pair found a bitter taste even in a solution 1:320,000 of EPTC; the other member considered even a solution 1:5,000 of this compound, i.e. a solution of the «taste blindness threshold concentration», completely tasteless. The former is a «taster», the latter is a «non-taster».

A similar intra-pair discrepancy in taste with regard to phenylthiocarbamide (PTC) in pairs of identical twins has been found by Ardashnikov c.s. and by Rife.

The ability to taste certain thiocarbamides without doubt being a hereditary property, the discrepancy of taste found must have an exogenic cause, the nature of which is unknown.

The fact in question is discussed on the basis of the well-established bimodality of the taste threshold concentration/frequency curve for thiocarbamides. It is pointed out that the «non-tasters» of the pairs of identical twins under consideration must be regarded as «crypto tasters». Their taste threshold concentration lies on the «wrong» side of the (more or less arbitrarily adopted) «taste blindness threshold concentration» (1:5,000 for EPTC and PTC).

The consequences of the existence of «crypto tasters» and also «crypto non-tasters» for work in the field of genetics with the aid of appropriate thiocarbamides are briefly indicated.

The heredity investigation on thrombopathia (v. Willebrand-Jürgens) at Aaland-Is. revealed the autosome-dominant inheritance of this blood disorder. Until now, it has been possible to keep watch on thrombopathia for five generations. The penetration of the thrombopathia gene is high, the expressiveness is unsteady. The bleeding tendency occurs in both sexes. On a number of patients, recent investigations have shown, that there can be a certain deficiency of factor VIII (AHG) as well as the functional disorder of thrombocytes. The role of factor VIII deficiency in the pathogenesis of thrombopathia (v. Willerand-Jürgens) is not clear yet. Recent investigations on patients with aalandish throm-bopathia have shown certain morphalogical changes in thrombocytes, not existing in thrombocytes of healthy persons.

In this preliminary report the question of the inheritance of amyotrophic lateral sclerosis is discussed. Through systematic search within the province of Westphalia and especially in the District of Münster, we found 251 index cases out of a population of about 250.000 neuro-psychiatric patients observed during the last 30 years. This material is being analysed from a clinical as well as from a genetic standpoint. The family study will be a basis for determination of the mode of inheritance. As for the sporadic cases of Charcot's disease, the effect of mutations must be taken into consideration.

The AA. have studied the pedigree of a family with Marfan's Syndrome (M.S.) including 90 persons of four generations. 37 subjects were examined both from a general and from an ophcalmological point of view. Furthermore reliable informations have been obtained about 13 more subjects related with them. Out of the total of 50 persons about whom the A A. have gathered sufficient evidence, 22 turned out to be affected by « ectopia lentis », 20 by various skeletal malformations, all of them included in the general picture of M.S. In 5 more cases some signs of cardiac involvement have been found. The percentage of affected subjects in the whole family was 40%, whereas the hereditary transmission of this syndrome appeared to be typical of a presumably single autosomal dominant character.

This is the first report in the literature of a consanguineous marriage between two subjects both affected by M.S. Out of 9 children who were born from this couple, 4 presented the M.S. (2 of them in a particularly severe form), 3 died during infancy, one was a stillborn and only one was a healthy individual.

The number of cases of this syndrome described in the medical literature is in continuous increase. Furthermore the growing prominence it is assuming in general medicine, owing to the skeletal, cardiac and vascular anomalies, stimulates to a more thorough knowledge of its hereditary transmission, in the hope of achieving a useful social prophylaxis.

The Authors describe the case of homozygous twins affected by sickle-cell anemia. The patients were physically similar and showed identical haematological findings. One of them had suffered often of severe sicklemic crisis during one of these appeared also a noticeable neurological complication.

Therefore the Authors discuss the pathogenesys of sickle-cell anemia according to the modern views.

Gli aspetti genetici del globulo rosso rappresentano oggi uno dei campi più fruttiferi in genetica ematologica, sia che essi si guardino dal punto di vista strettamente morfologico, sia da quello della loro costituzione antigene, sia per la qualità dell'emoglobina contenuta etc. Ancora limitato invece è il nostro patrimonio di conoscenze per quel che riguarda i globuli bianchi.

Eppure è un campo ricco di promesse, come il notevole numero di forme strettamente legate alla genetica sta a dimostrare. Ricordiamo ad esempio l'anomalia di Alder, quella di Pelger, l'eosinofilia familiare, la granulopenia familiare, etc. — È quindi uno dei punti fondamentali del nostro programma di lavoro uno studio sistematico degli aspetti genetici nella anatomia, fisiologia e patologia del globulo bianco. Non sto a ricordarvi i punti di notevole interesse già ottenuti e che, essendo pubblicati, vi sono già certamente noti. Vorrei invece prospettarvi alcune considerazioni di interesse prevalentemente teorico che pur interessando tutto il campo della genetica medica risaltano nella loro piena attualità nel campo delle genetica ematologica. Dovrò a questo proposito ricalcare alcuni punti già trattati nella relazione Gedda-Torrioli Riggio, ma l'analogia tra i due argomenti, fin troppo evidente, non mi permette di fare altrimenti.

The authors describe a case of « situs viscerum inversus totalis » in two DZ twin-sisters.

They debate, on the basis of the elements in their possession, whether they have to do with DZ or MZ twin-sisters, and declare in favour of the former hypothesis. Accordingly, this is the fifth case described of such anomaly in twins, after the cases of Reinhardt, Pezzi and Carugati, Boccia and Maglione, Kean, and it is the first case in DZ twins.

The authors think the case described will contribute in winning for DZ twinship an acknowledgement of real twinship, according to Gedda's statements.

A deaf-mute boy of 14 years, who was examined owing to his poor progress in the special school for the deaf-mute, proved to be one of a twin. Both boys were born 6 weeks before the normal term by breach presentation at the end of an uncomplicated pregnancy. There was one placenta. The mother had noticed A's deafness when he was 11 weeks old, as he did not react to street noises as his brother did. The twin brother B is deaf in the right ear; he attends the secondary school and his performance is average.

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

The Author reports ten cases of affections similar to Marfan's Syndrome and, on the basis of the already rich bibliography, divides them into two groups:

1) cases 4, 5, 6 and 7 appear to suffer from Marfan's Syndrome with all its characters;

2) cases 1, 2, 3, 8, 9 and 10 seem to suffer from another affection, similar but identifiable through some factors such as the different anatomical substratum, possibly the etiopathogenic cause and, mostly, the lack of heredity.

The Author therefore advocates further careful studies of all the factors present in the ascertained cases of Marfan's Syndrome, and the separation of other cases that, much as they may be similar, differ in one or more factors of which heredity is the most significant.

1) An increase of hemoglobin A2 over 3% is regarded as one of the two fundamental manifestations of the commonest thalassemic mutant in the heterozygous condition i.e. thalassemia minima or typical microcytemia (here indicated as MA), while the other element is represented by the characteristic ensemble of the morphological and functional alterations of the erythrocytes. This assumption is based on the fact that the infrequent cases of sharp dissociation between the two elements i.e.i) red cells normality with A2 above 3 % (mA), and ii) microcytemia with normal levels of A2 (Ma). run in families and cannot be easily explained as a partial manifestation of a typical microcytemic gene.

2) The unilocal origin of the Ma variant seems to be well proved by the segregations from 5 Ma × ma (normal) matings where 10 Ma and 9 ma children have been observed. Moreover this variant has been detected among the relatives of a carrier of Hb H, born from a Ma × ma mating. This is in agreement with other recently published reports and strongly suggests that the relationship between Hb H and atypical microcytemia (with low A2) has a precise etiological significance.

3) The unilocal origin of the mA variant (normocytic thalassemia?) is at the moment less firmly established. However a family is described (mating mA × MA) where the father and one child show the same mA phenotype; moreover one other child is affected by constitutional microcytic anemia (Th. media). This finding supports the observations of Silvestroni and Bianco, who have already reported that a number of patients with intermediate thalassemic syndromes are born from mA × MA matings.

4) At the moment no data exist which enable to decide whether the different thalassemias are mutations of the same or of different loci; however if they shall be shown to be allelic, the hypothesis must be kept in mind that the Thalassemia locus is a complex locus with more than one mutation sides, responsible for different but correlated aspects of the phenotype (red cell structure and A2 level).

5) The new hemoglobin B2, is described which has been recently identified by Kunkel. Ceppellini, Dunn and Firsheim (unpublished data). Reasons are given for regarding B2 as the product of a mutation at the locus which is responsable for the synthesis of A2 (locus Hb2), The relationship of allelism between A2 and B2 is a proof of the genetic heterogeneity of the hemoglobin of the normal adult and may be taken as a model suggesting the genetic heterogeneity of hemoglobin A, notwithstanding its apparent chemical omogeneity.

6) It is concluded that the conditions generally indicated as Thalassemias represent a genetically heterogeneous group, which have nonetheless to do with related metabolic processes. It is therefore suggested that the term Thalassemia may be mantained for indicating all hereditary defects which directly interfere with hemoglobinogenesis although not producing a specific abnormal hemoglobin.