A recessive pedigree of retinitis pigmentosa and Laurence-Moon-Bardet-Biedl syndrome. The retinitis affects all male children of a normal couple; the only female child shows a complete Laurence-Moon-Bardet-Biedl syndrome. The pedigree of the family shows no other case of the disease in six generations.

On examining all the hypotheses on thalassemia the one that seems more reliable in the onset in a paleomediterranean race.

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.

After a synthetic review of the literature, the Author reports the results of his statistical researches on the parental age of 739 congenitally malformed children born, from 1942 to 1957, at the Istituto Provinciale di Maternità of Milan.

Concerning the mongolism it seems proved the influence of some particular factors correlated with the maternal age, while on the contrary the paternal age and the birth-order seem to have no influence. About the other malformations examined in this research the parental age and the birth-order appear without relevance.

Die Pelger-Huet'sche Kernanomalie ist bei Aezten und Laborantinnen nahezu unbekannt. Nur zwei von etwa 350 in Westfalen systematisch befragten Krankenhaus-Aerzten waren mit diesem Begriff vertraut. Jofin (1955) berichtet aus Russland über die gleiche Unkenntnis. Seit der ersten Beschreibung der Varietät durch Pelger (1928) sind in dreißig Jahren nach Petzel und Undritz (1957) bisher 110 unabhängige Pelger-Sippen veröffentlicht worden. Das Merkmal wurde beobachtet in Bevölkerungen aller Rassen.

Die erste Schätzung der Häufigkeit in einer unausgelesenen Population hat Undritz (1939) vorgenommen. Der Untersucher rechnet mit einem Vorkommen von einer Pelger-Familie unter tausend in dieser Beziehung unauffälligen Sippen. Nachtsheim (1946-1948) hat zuerst eine größere Bevölkerung auslesefrei untersuchen können: unter etwa 20.000 Berlinern aller Altersstufen fanden sich 18 heterozygote Merkmalsträger. Die Probanden waren nicht miteinander verwandt. Nachtsheim bestätigte damit die Schätzung von Undritz. Wiedemann und Saile (1957) untersuchten 15.000 Schüler in Krefeld. Die Jungen und Mädchen waren zwischen 9 und 19 Jahre alt. In diesem auslesefreien Kollektiv sind nur 3 heterozygote Merkmalsträger gefunden worden. Die Häufigkeit beträgt also 1: 5.000. Davidson (1954) fand unter 36.000 Blutausstrichen in London 6 Fälle mit Pelger'scher Varietät. Der Untersucher gibt die Häufigkeit mit 1: 6.000 an. Leider fehlen Angaben über die Methodik der Untersuchung. Yamasowa (1953) soll nach einer Mitteilung an Undritz (cit. G. Petzel und E. Undritz, 1957) bei 20.000 Japanern nur einmal die heterozygote Manifestation beobachtet haben. Die Frequenz der Pelger-Anomalie läßt sich nur bestimmen durch größere Reihenuntersuchungen. Vergleichbar sind bisher lediglich die Ergebnisse von Nachtsheim und Wiedemann. Diese Befunde weichen stark voneinander ab.

The AA. state that favism as a disease but is not inherited the underlying biochemical rer cells defectis. The defect is present in 12,1% of the sardinian population (immigrated in Genova) and is absent in subjects of ligurian extraction. A remarkable number of sensitive subjects have no clinical disturbances at all. The inheritance is of dominant mendelian type. In the females there is a low gene penetrance and expressivity. Even if apparenty normal to the biochemical tests they frequently transmit the defect to the sons.

The possibility of a sex-linked hereditary transmission is taken into consideration.