A new syndrome in three siblings, a man and two women, now aged 33-45 years, is described. The syndrome consists of the following symptoms:

1. Oligophrenia (IQ about 30, Terman-Merrill test) with harmonic infantilism.

2. Dense cataract with onset in childhood.

3. Myopathy, mainly affecting proximal muscles but also facial, masticatory, and external ocular muscles. The myopathy probably had its onset at puberty and progressed, in 2 of the 3 siblings until they were confined to a wheel chair.

4. Signs of pyramidal tract involvement and slight ataxia, probably congenital and nonprogressive.

5. Deficient speech development.

6. Skeletal changes including thoracic deformity, scoliosis, pes planovalgus, shortening of the fourth toe, and osseous dystrophy especially in the hands and feet.

7. Hypergonadotropic hypogonadism with primary amenorrhea in one of the sisters, very early menopause in the other and pronounced testicular atrophy in the brother. There were no signs of other endocrine insufficiency and the secondary sex characters, body hair distribution and libido were normal. The karyotype was normal in all three siblings. The heredity was considered to be probably autosomal recessive. Since, therefore, a number of independent organs were affected, the syndrome has been assumed to be caused by a penetrating metabolic defect the nature of which is unknown.

A case of congenital multiple rhabdomyoma of the heart in both of a set of twins of like sex is presented. A separated diamnionic dichorionic placenta was found. However because both twins had the same sex, the same color of eyes, the same blood group and very similar plantar prints pattern they were considered MZ. Twin A died after 10 days becouse of intractable heart failure. Twin B died one hour after birth of hydrops fetalis. The autopsies showed the presence of multiple rabdomyoma in the walls of both hearts and in Twin B a widely patent ductus arteriosus. No other extracardiac anomalies were noted. The diagnosis of rhabdomyoma of the heart, as is usual, was not made. It should be suspected in any infant who shows evidence of cardiac disease. On the other hand, this first case, known so far in the world literature of congenital rhabdomyoma of the heart in both twins could be an important contribution to the knowledge of the nature of this so discussed lesion.

The Authors report on a case of congenital anorchidism, confirmed by laparatomy, with negative sexual chromatin and an XY karyotype. One of his two sisters, with primary amenorrhea, presented marked hypoplasia of the genital tract, positive sexual chromatin and in 3% of the cells with 2 chromatine corpuscles, XO/XX/XXX karyotype. The presence in the same family of two cases of gonadal dysgenesis appears to have occurred by mere chance.

The subject of cloning has had a deep impact on both public opinion and the scientific community, asking themselves about its meaning, its possible extension to humans, its potential applications and implications.

Cloning was often presented by the media as a technique that would allow perpetuating oneself.

The resulting impact of cloning on public opinion might be interpreted, in part at least, as making real the dream of reincarnation.

In the Christian faith cloning, as a hypothesis of reincarnation, has no place, since the soul is already immortal, while the body dies (excepting its reunion with its soul on the resurrection of the last day).

Thus a person's immortality is a dogma of faith for the believer, but only as immortality of the soul, that will rejoin its body only at the end of earthly time, while in our “earthly time” the body is-mortal.

The body's mortality is part of natural biological processes. Only in primitive organisms, such as bacteria, and in organisms reproducing through scions or similar processes (as farmers and florists well know) it is harder to set a definite moment for the birth or death of a single individual. But in sexually reproducing higher organisms, such as we are, the cycle of individual life is clearly encompassed and expressed by the well-known sequence whereby each individual “is born, grows, reproduces and dies”.

If we consider the individual in all its manifestations – what we geneticists call the “phenotype”, resulting from the interactions between genotype and environment – each subject is undoubtedly endowed with his individuality.

The repetition of the very same genotype does not mean repetition of the same individual, as clearly evidenced by the observation of identical twins (monozygotic, i.e., both derived from the same fertilized egg, the zygote) who, much as so closely resembling each other, are each endowed with his or her unique individuality.

A systematic register of twin births, covering the southernmost province of Sweden from 1870 onwards, was erected at the Psychiatric Department of the University of Lund in the late forties; it is thus the oldest of the Scandinavian twin registers. The register contains 20 000-25 000 twin pairs, unselected for survival. By confrontation with some 15 000-20 000 consecutive Cases of acute concussion of the brain, from surgical wards, and a similar number of alcoholics, and of patients with peptic ulcer, a number of MZ pairs discordant for each of these diagnoses were extracted and thoroughly examined in a psychiatric and psychological study of nervous sequels, organic deterioration, and the influence of stress.

The peoples of the Lake Chad region who form the subject of this study are inhabitants of Bornu, today an administrative province of northeast Nigeria which includes the northern Cameroons, formerly one of the great empires of interior Africa. There were several reasons why this survey of abnormal haemoglobins was undertaken. It was an obvious consideration that nothing was known of their incidence in this area; indeed for the vast complicated ethnological patchwork that comprises the peoples of northern Nigeria there have been studied to date only general samples, predominantly Hausa. It should be regarded as a matter of urgency to ascertain gene frequencies in African peoples before their differences are completely obliterated with the breakdown of tribal patterns, and before the selection pressure differentials are readjusted with the arrival of modern medicine.

Another more cogent reason however lay in the historical information available for the area. Ancient tribal traditions are supplemented by the writings of early Muslim travellers and the written documents of the people themselves, and though many of the latter records were destroyed in the several invasions of Bornu, enough remain to enable the main outline of events over the last 1,200 years to be reconstructed. The story is of a succession of invasions and immigrations by peoples of different ethnic affinities, speaking different languages, possessing different customs, ways of life and outlook; the habitat into which they came is essentially uniform, a vast plain of scrub savana. It appeared of interest to enquire whether the demands of a uniform habitat had levelled out the genetic differences expected in peoples of such diverse orieins, and if not to examine the extent to which such differences had been retained.

È stato più volte segnalato che nelle fratrie di pazienti affette da disgenesia gonadica si verificano parti multipli in numero più elevato del normale. Nelle casistiche riportate (Boyer et al, 1961; Lindsten, 1963; Nance e Uchida, 1964), l'incidenza dei parti gemellari oscilla dal 25% al 63%; considerando globalmente tutti i casi degli autori citati (524 nascite), la frequenza risulta del 32%. Un'elevata incidenza di parti gemellari è segnalata anche fra ascendenti e collaterali delle pazienti.

Il fenomeno viene attribuito a fattori, probabilmente in parte ereditari, che possano provocare un'instabilità nei meccanismi che regolano le divisioni cellulari, tan to nella gametogenesi che nell'embriogenesi (Root et al, 1964). Si deve tuttavia segnalare che nelle fratrie dei pazienti con sindrome di Down, nonostante un errore meiotico nell'ovogenesi e l'età materna più elevata della media, non si osserva un numero di gemelli superiore al normale (∅ster, 1953; Allen e Baroff, 1955).

il quadro clinico e quello cariologico delle disgenesie gonadiche con fenotipo femminile sono alquanto variabili (Giusti et al, 1966). Si possono distinguere: (1) sindrome di Turner tipica, con bassa statura, quadro malformativo completo, compreso il tipico pterigium colli; (2) sindrome di Turner attenuata, con quadro malformativo attenuato, generalmente senza pterigium; (3) casi senza alcuna malformazione, eccettuata la bassa statura; (4) casi con disgenesia gonadica pura che presentano un aspetto somatico completamente regolare, salvo Pinfantilismo. Nella sindrome di Turner tipica il cariogramma rivela quasi sempre il caratteristico ipoploidismo XO; nei casi di disgenesia gonadica pura il cariotipo è molto spesso normale; negli altri casi il quadro è variabile: fra i soggetti con mosaicismo di tipo XO/XX prevalgono quadri di sindrome di Turner attenuata; fra quelli di tipo XO/XY sono abbastanza frequenti le neoplasie gonadiche del tipo del gonadoblastoma.

The Authors confirm the possibility of a discordance between the sex-chromatin of the cells in the breast-carcinoma and that of the cells of a tumour carrier. It is assumed that the somatic mutation giving rise to the formation of the somatic cell might also involve sex-chromatin.

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 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.

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.

Genetics in the Soviet Union has undergone a profound and long crisis, involving the realm of Biological Sciences and Science and Culture as a whole.

This was not merely due to the emergence of neo-Lamarckian Michurinism, claiming the inheritance of acquired characters to be possible and necessary, and the genotype to be plastic and shakable, especially under particular environmental and physiological conditions: this could have been the object of scientific discussions, probably of a controversy, too, just as one century ago, but would have hardly involved matters of principle and of method in Scientific Research, nor would the controversy have degenerated, absurdly giving rise to a “ Western ” and a “ Soviet Science ”.

Two closely connected factors, equally important and equally witnessing a reject of the principles underlying the scientific method, may be considered as the actual source of this partition of Science, namely:

i) The assumption of a primacy of Ideology, thus making Science be submitted to it, and scientific theories be held right or wrong, according to their fitting or not ideological ones;

ii) Violent political pressures and administrative coercion on scientific thought, and on scientists themselves.

Along with such matters of principle, matters of method in research planning and the formulation of results made it impossible to reach a plain evaluation of Lysenko's theories and results.

Now that a normal athmosphere appears to have been re-established for the development of genetic research in the Soviet Union, rejecting, or ignoring the whole of Lysenko's work, could prove just as wrong as Lysenko's reject of Classic Genetics.

Le attuali conoscenze sulla fisiopatologia dei connettivi ci permettono di considerare questi tessuti sopratutto per la loro attiva partecipazione agli scambi metabobolici e, in condizioni patologiche, per le loro funzioni difensive ed in genere reattive. È venuto a crearsi un grande raggruppamento nosologico — le mesenchimopatie reattive (impropriamente dette malattie del collageno) — la cui base istopatologica e patogenetica consiste in una particolare alterazione del connettivo, particolarmente della sostanza fondamentale di questo.

La riconosciuta essenziale importanza di questo tessuto nello svolgersi dei processi flogistici ed istoreattivi in genere non deve tuttavia far dimenticare l'altro aspetto della funzione del connettivo da più tempo noto, quello della sua funzione di sostegno, da intendersi non solamente in senso meccanico passivo, ma quale partecipazione attiva alla regolazione ed alla eufunzionalità dei vari tessuti, organi ed apparati.

Una primitiva turba della funzione meccanica di sostegno del connettivo può essere responsabile di molteplici quadri morbosi e soprattutto può costituire quella patologia di sfondo capace di creare, più spesso condizionare e modificare una eventuale patologia di primo piano.

Accanto ad una patologia del connettivo schiettamente flogistica (le mesenchimopatie reattive) deve essere considerata pertanto una patologia dei tessuti di origine mesenchimale a impronta non flogistica (nella quale i fenomeni flogistici, se presenti, costituiscono una contaminazione secondaria non obbligata) il cui momento patogenetico essenziale risiede in una primitiva alterazione della funzione di sostegno, che, pur nella più ampia visione attuale delle funzioni dei connettivi, rimane sempre fondamentale.

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

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.

Già da tempo il sangue dei gemelli è stato studiato dal punto di vista biometrico ed in particolare dal punto di vista eritrocitometrico (Glatzel 1931, Ostertag 1935).

Siamo tornati sull'argomento délla comparazione delle misure eritrocitometriche di coppie di gemelli perché convinti della grande importanza teorica e pratica di questo studio, tanto dal punto di vista strettamente genetico, quanto dal punto di vista medico, dati i ben noti vantaggi del metodo comparativo gemellare.

Le misurazioni vennero eseguite con un microscopio universale Galileo, direttamente sull'immagine reale proiettata su di uno schermo di vetro smerigliato 16 × 18. L'obbiettivo impiegato fu un 99 × e il tiraggio dello specchio proiettore venne aggiustato fino ad ottenere i 2000 ingrandimenti esatti, tarati con un vetrino micrometrico. I preparati furono dei comuni strisci a strato rigorosamente monoglobulare, colorati con May-Grunwald-Giemsa. La colorazione venne spinta un poco oltre i tempi comunemente usati, per ottenere una maggiore nitidezza di contorni nella proiezione dei globuli rossi.

Le misurazioni vennero direttamente eseguite sulla lastra di vetro smerigliato, mediante un regolo millimetrato trasparente.

Con detta tecnica, risultando un micron delle dimensioni di 2 millimetri, riescì esatta la misurazione di mezzo micron e discretamente approssimata quella del quarto di micron.