A baby with alpha-chain thalassemia hydrops fetalis was born to an Iraqian Jewish couple of Iraqi-Kurdish extraction. Hemoglobin Bart's constituted only 40% of the total hemoglobin, much less than usually found in alpha-thalassemia hydrops fetalis.

That this is a particular expression of hemoglobin H disease is considered. The likelihood of two alpha-chain loci, rather than one alpha-chain locus, in this family, is also discussed.

A computer system analysing human metaphase images and finding banding patterns of R-banded chromosomes has been set up. This first paper describes the interactive procedure in selection of metaphase images, automatically digitized starting from microphotographic negatives.

Plasma dopamine beta hydroxylase (DBH) activity was determined in MZ twins and in siblings of both sexes. The enzyme activities were found to be virtually identical in MZ twins. DBH activity was less similar in same-sex sibs, but still significantly correlated. These results indicate that plasma DBH activity is genetically determined.

Two unrelated patients with trisomy 2q32 → q37, resulting from maternal balanced translocations t(2; 13) (q32 q33) and t(2; 15) (q32 q26) are reported. Comparison of the clinical findings suggests that trisomy 2q is associated with a rather characteristic constellation of symptoms and malformations.

A case of “G 2 Deletion Syndrome” is reported, based on concordant cytogenetic, clinical and dermatoglyphic findings. The definition of the syndrome, as associated with either a ring or a partially deleted chromosome 22, is discussed. The resulting interpretation favours the hypothesis of deletion of the short arm extending into the centromere.

Different mathematical approaches to study the extent of genetic variation of natural populations are reviewed. The modern understanding of the gene structure permits new interpretations of existing concepts like fixation or inbreeding. A more recent measure of genie divergence, which at molecular level is designed to measure net codon differences is also seen to be related with gene diversity in a substructed population. It is argued that such variations are produced and preserved possibly by simultaneous action of migration, mutation, selection, and random genetic drift. At the present moment it is very difficult to isolate out the effect of each factor because of varying degrees of variation at the different gene sites and between different sets of populations.

A modified centromeric heterochromatin banding technique using barium hydroxide octahydrate is described. The relationship between slide maturity and time of denaturation by barium-hydroxide is discussed.

A review of the case histories of 471 diabetic children admitted to a children's hospital during the decade 1960 to 1970 showed that the proportion of diabetics among hospitalized Negro children was significantly lower than that among white children (3.8 Negro vs. 10.7 white per 1000 admissions same ethnic group, P < 0.005). However, the proportion of mild diabetes, characterized by absence of ketosis and no insulin requirement, was higher among Negro (18%) than among white diabetic children (0.5%). These differences could not be explained by differences in environmental factors considered. It is suggested that genetic factors may account for a substantial part of this Negro-white difference.

Intraclass correlation values have been studied in a sample of 50 MZ and 50 DZ twins with respect to fourteen palmar dermatoglyphic metric traits in binary combinations. The results confirm the general trends already shown in singleton studies. The shape of the palmar surface does not appear to be significantly correlated with other metric traits. Generally speaking, a large independence has been found between the various traits.

The world distribution of the Australia antigen, the agent responsible for hepatitis in man, is reviewed on the basis of the available literature, with the addition of a personal research on a sample of German donors.

The wide fluctuations of the three angular measurements, a-d, PMPC, and DWC with longitudinal axis make palmar projective breadth (PB) the ideal standard axis for any work involving the quantitative estimates of longitudinal and transverse trends of palmar triradii.

The distribution of ABO blood groups was studied in 459 Chinese and 65 Malay newborns with deficiency of G6PD, and in 1181 Chinese and 535 Malay newborns with normal levels of the enzyme. Similarly, the distribution of Rhesus blood groups was studied in 248 G6PD deficient Chinese newborns and in 255 normal subjects. No association between the ABO blood groups and G6PD deficiency was observed in either Chinese or Malays. For the Rhesus system there was found to be a statistically significant decrease in the frequency of genotypes containing the complex R 1 in G6PD deficient subjects compared with that in normal subjects.

An analysis is attempted to throw more light on the inheritance of rhesus factor in humans and the Fisher-Race and Wiener's concepts are respectively evaluated.

It is claimed that the Rh-Hr locus is not comprised of the recombination of C, D, E, c and e genes, much less the help of the auxiliary (d) which merely appears to be a conventional approach derived from an even principle of recombination for a polyhybrid cross.

As for Wiener's rare or common mutants of Rh-Hr in humans and the emergence of different agglutinogens like a sort of genetic proliferation, no such parallel of inheritance has yet been found in experimental plants or animals.

Probably the scarcity of certain genotypes is due to the rare chance of fertilization or embryonic development due to incompatibility between certain mutants of Rh-Hr genes, similar to ABO-Rh incompatibility.

Present concepts on the etiology of childhood tumours are reviewed. The differences in clinical manifestations of the hereditary and nonhereditary types are illustrated with data on retinoblastoma and on nephroblastoma. Notwithstanding these differences it is most likely that the fundamental etiologic process is the same in both and that it consists in successive mutational events. The possible consequences of the association of retinoblastoma with a deletion of chromosome 13 in some cases are discussed. Several explanations for the association of Wilms' tumour and aniridia are also discussed.

A peculiar type of hypodontia is described in two opposite sexed siblings and considered to be inherited as an autosomal recessive trait

The levels of the two enzymes, GAL-1-PUT and GAL-KIN, have been examined in a sample of 35 MZ and 45 DZ twin pairs of both sexes. The activities of these enzymes do not appear to be influenced by sex. The role of genetic factors appears to be rather limited in the case of GAL-1-PUT, but much higher in the case of GAL-KIN.

This paper presents a general view on congenital malformations and a summary of some anatomic, clinical, epidemiological and genetic aspects of congenital heart diseases. Some “recommendations” for research are also briefly mentioned.

Gm and Inv polymorphism has been investigated on a sample of the general Greek population (N = 256) and on a sample of the Achaia population of Northwestern Peloponnesus (N = 150). The estimated frequencies were, respectively in the two groups: Gm1, 0.156 vs. 0.180; Gm1,2, 0.010 vs. 0.017; Gm4,12, 0.834 vs. 0.803; Inv (+1), 0.125 vs. 0.140.

The traits, earlobe attachment, hand clasping and arm folding, are found to show a high degree of homogeneity in the Tamil Brahmans.

The latter appear to be closest to the Bengali Brahmans, with respect to all three traits, and differ significantly from other Brahman populations, with respect to earlobe.