The Authors report on the steps involved in the computerization (coding of data, card punching and tape recording) of a Twin Register initiated in 1942 and currently approaching 11,000 cases of multiple births.

The Register is permanent in that it involves continued updating of information and addition of new cases. It includes twins of any age, sex, zygosity and health condition.

The experience gained in the reported project can be usefully shared in wiew of international cooperation and standardization.

Perinatal mortality in twins is found to vary widely in six developed countries for which national data are available. The influence of factors such as birth weight, maternal age, and parity is examined, but no consistent trend is found.

Measurement of the Y chromosome has been made in 508 males examined for military service. There was a normal Gaussian distribution of the length of the Y chromosome.

The frequency of mentally retarded males was significantly higher than expected among those with a comparatively large Y (Y/F ≧ 1.00). It is concluded that there may be an association between the length of the Y chromosome and certain types of mental retardation.

A case of probably MZ twin girls is reported, one of which presenting a serious gonadal hypoplasia, macroschelia and a number of slight malformations, while the other appeared perfectly normal. Both twins presented positive sex-chromatine and a normal karyotype, i. e. 44 A + XX.

After a review of twin cases of the « rudimentary gonad syndrome » — which may differ as to its origin, according to the various cases — the present case, the anomalies exhibited by one of the twins are probably the result of the action of a number of noxae, in the course of embryological or fetal life.

Twin and pedigree data are presented which indicate that relative length of hallux and adjacent second toe is based on simple Mendelian genetic factors. The normal anatomical trait involves two alleles and a single autosomal locus. The factor for relatively long hallux is recessive to the one for relatively long second toe. There is no evidence of sex influence. Penetrance is 100%. Expressivity is variable, and bilateral discordance is observed in a minority of heterozygous subjects. In every such case, the dominant genotype is expressed in the right foot. The recessive and dominant phenotypes occur, respectively, in 76% and 24% of the greater Cleveland area Caucasian population. Gene frequencies in this population are 87% and 13%, respectively, for the recessive and dominant allele.

A case of 8 trisomy syndrome, identified on the basis of the heat denaturation technique, has been detected in a patient with mental retardation, congenital malformations, and peculiar ocular anomalies. This observation confirms that, even without evidence of mosaicism, this chromosome does not seriously upset the viability of cells and could be less deleterious to the individual than trisomy 13, 18, or 21.

The mental development is not too much impaired and the skeletal abnormalities are mild, as compared to those found in previously reported cases. On the other hand, the cardiovascular system is involved and the ocular lesions are complex. They include prominent eyes, epicanthus, hypertelorism, antimongoloid slant of palpebral fissures, ectopia of lacrimal point, megalocornea, enlarged iridocorneal angle, subatrophic papilla, tortuosities of retinal vessels, absence of deep perception.

Previous results regarding a seasonality of twin births have been conflicting. Since the biology of monozygotic (MZ) twinning differs from that of dizygotic (DZ) twinning, it is possible that the seasonality of birth for these two twin types might differ. However, all previous studies examining the seasonality of birth by zygosity has estimated zygosity by Weinberg's method. In this report, the month of birth of all MZ and DZ veteran twins from the United States National Academy of Sciences-National Research Council (NAS-NRC) Twin Registry are compared with that found for an unselected group of veterans. Zygosity in the registry has been individually assigned to all twin pairs by a well-validated method. Compared to unselected veterans, the distribution of births by months did not differ significantly for all the veteran twin pairs or for the MZ and DZ twin pairs considered separately. The distribution of month of birth of the MZ and DZ twin pairs did not differ significantly from one another. These results are not consistent with a significant seasonality of MZ, DZ, or all twin births in the United States.

In the course of study and publication of various aspects of natality and birth statistics, the writer has had occasion to unearth and compile the reports and records of quintuplet and sextuplet births which have occurred in the United States. Seventeen cases of such quintuplet births have been found, mostly well attested; and five of sextuplets, two well attested and three not completely verified.

The source, character, and reliability of the information on which the records of quintuple and other high multiple births are based are matters for careful consideration and evaluation.

Of the 17 quintuplet cases here reported 12 may be accepted as well verified: either on the authority of the attending physicians by their reports published in medical journals, by formal certification of the births to public registries of vital statistics, and statements obtained by personal correspondence. Most of the cases were reported in the newspapers; but such accounts, especially of local and contemporary cases, publicised by responsible newspapers and news-gathering agencies, may usually with due discrimination be accepted as quite reliable, especially when substantiated by photographs or verifiable from other sources. The information concerning one case is derived from a newspaper account which there is no reason to question; two of the cases (1826) were reported in a high-class newspaper nearly a year later from the physician's old records; one news story is quite hearsay in character; and one case is based on family statements lacking in specific details.

Two remarks on Rao's Two-Gene Hypothesis for the inheritance of hypertrichosis of ear rims are offered here. First remark provides justification for the particular location of NH- and H-loci on the sex chromosomes in man. A single-case longitudinal study is also reported, which gives rise to the possibility of testing the two-gene hypothesis on family data.

In a retrospective survey of 336 mothers of recently born multiples, 71% reported suspicions of twin pregnancy prior to medical confirmation. Primiparous and multiparous reports of symptoms may be utilized to significantly increase the early diagnosis of the presence of multiples.

The Author reports on the simultaneous appearance of a skin manifestation of the B.B.S. disease in female Twins. Partly diffuse and partly nodose infiltrations, with tendency to peripheral extension and central resolution constituted the clinical picture of the disease: (diffuse, small nodose variety of Boeck's sarcoids). In both cases the localisation was on the right cheek, the time-course was very similar. The histological picture was almost identical and was represented by infiltrations of epiteloid-cells with concentrical distribution.

The Authors describe from the electro-phoretic, biochemical, spectrophotometric and chromatographic points of view the slow Hb as observed in 5 family groups from Ferrara and Bologna, in 4 of which they found an Hb L, while the 5th presented an Hb D. A new Hb is therefore added to the numerous abonrmal hemoglobines already found in Italy (Hb S, Hb G, Hb D, Hb K, Hb H, Hb J, abundant Hb A2): the Hb L, which is rather frequent in the region of Ferrara.

As for the Hb D, its presence in different regions of Italy is stressed, in as far as the first family, previously described, came from Calabria, and the present one from Bologna.

Parents of a sample of 76 same sexed pairs of twins aged 3 to 9 months completed a mailed similarity questionnaire. It included the Bonnelykke et al.'s questionnaire and a four anthropological variable scale. To improve each of these two methods, three other combined methods were carried out and results were compared with the biological zygosity diagnosis. The Bonnelykke et al.'s classification combined with anthropological scale (method 4) gave only 1.2% misclassified in the whole sample. It is concluded that zygosity diagnosis using this type of procedure to distinguish MZ and DZ pairs would be important not only for epidemiological study but also for pediatricians and parents.

In vaginally delivered births (including a few cases where the mothers were under epidural anesthesia), differences between first and second born twins were compared according to presentation at delivery. Of twins with vertex/vertex presentation in 15 primipara cases and in 14 multipara cases, pO2 levels for the second born were significantly lower (both being p < 0.05) than for the first born. Of twins vertex/non-vertex presentation, the second born in 9 primipara cases showed significantly lower pH, pO2 and HCO3 levels (p<0.05). Also for multipara twins, the second born had significantly lower pH (p<0.05) and significantly higher pCO2 (p<0.05) values. Umbilical cord blood gas value findings indicate unfavourable conditions for second born twins.

The maternal risk factors that correlate with small-for-dateness among twins have been analyzed using a sample of 659 twin pairs and a matched sample of singletons. Non-marital status, job involvement, and the previous delivery of a low-birth weight (<2,500g) infant present a negative interaction with twinning, as low gestational age-adjusted birth weight does not correlate significantly with these risk factors among twin gestations, while it does among singleton gestations. On the other hand, the effects of parity, habitual maternal weight, smoking during pregnancy, and twinning are additive on gestational age-adjusted birth weight. Indeed, the decrease in adjusted birth weight associated with these risk factors is of the same magnitude among twins and singletons and is statistically significant in both cases. These findings suggest that exposure of twin pregnancies to these latter risk factors, and particularly to smoking during pregnancy, can lead to the delivery of newborns with extremely low birth weights.

Inbreeding effect revealed as mortality and morbidity in general may be ascribed to deleterious mutations generally present at different loci of the ancestors common to each consanguineous mating. A new coefficient (E) is suggested to measure this effect. On the basis of this theory, a new method to estimate the load of mutations disclosed by inbreeding has been presented elsewhere, and is now extended. In this method, the load is estimated without introducing gene frequency notions. Genetic loads estimated through our method are in rather close agreement to those estimated through the classical theory of Morton, Crow and Muller (MCM).

In this preliminary report, which is part of a wider and more detailed study still in progress, I am reporting mainly the twins' mental state and associated physical abnormalities. For this purpose, I am surveying all the 2442 long-stay patients admitted during 30 years (1 September 1938-31 August 1968) to the Stoke Park Hospital Group, Bristol, which provides 1800 beds for mentally retarded patients of both sexes and of all ages. The survey's sample is shown in Tab. I.

Die Verfasser berichten ausführlich über einen seltenen Familienbefund einer osteogenesis imperfecta tarda bei einer fünfzigjährigen Frau und ihren beiden Zwillingstöchtern, MZ, im Alter von zwanzig Jahren. Dieser neue veröffentlichte Fall bestätigt die Erblichkeit der Krankheit und ihren dominanten Charakter; ausserdem zeugt er von einem hohen Durchdringungsvermögen und der Möglichkeit eines Familienmerkmals, welches — vie im vorliegenden Falle — in einem Vorwiegen der Plastizität über die Zerbrechlichkeit der Knochen und in fehlender Otosklerose besteht.

Beim Skelett der Zwillinge bemerkt man ausserdem — im Gegensatz zur Mutter — Zonen von Knochenverdìchtung (lokalisierte, sekundäre Osteosklerose); und zwar an ähnlichen Stellen, was darauf schliessen lässt, dass sie genotypisch bedingt sind, obwohl dieses ein ungewöhnliches Symptom ist.

The phenomenon of life, in its individual and collective expressions, develops through a sequence of times resulting from the interference of biological with physical time. While physical time is uniform, the biological one differs from one individual to the other, except for MZ twins.

The problem of biological time has been studied in physiology and informational genetics from the viewpoint of its succession of single times, although irrespective of the individual variability in their duration. This variability has already been shown by the authors to be hereditary, its inheritance being directly connected with the hereditary unit.

Biological time corresponds to the duration of degradation (“chronon”) of the energy of stability (“ergon”) possessed by the gene and, by extension, to the total chronon of the genotypes underlying a given structure or function. Ergon and chronon are correlated index values, thereby constituting a system (“E/C system”).

The individual variability of biological time depends on the A-T/G-G ratio in the DNA molecule, on the different amount of genie redundancy and on the different possibilities of repair of corresponding genes. The variability of these or possibly other causal factors determines the stability with respect to the environment in which the information operates, and especially to mutagenic agents.

The authors apply the E/C model to epidemiologic data concerning diabetes, lupus erythematosus, and peptic ulcer, and verify the consistency of the experimental data with the theoretical model.