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Two new cases of the Fraser syndrome are presented. The literature review indicates that the clinical expression inside families is very constant with regard to cryptophthalmos, syndactyly or internal malformations. Particularly the fatal issue of severe forms is regularly constant in each of the families recently reported with a detailed autopsy. These conclusion would change the genetic counseling. A lethal form of the disease would recur in the same manner and could be detected by exhibiting the genito-urinary malformations at ultrasonography or even the syndactyly at foetoscopy.

An infant with alobar holoprosencephaly and hydrocephalus is reported. The mechanism of hydrocephalus (aqueductal stenosis) and the mother's previous history (2 boys from a first marriage still-born with hydrocephalus) suggest a X-linked hydrocephalus. The association of a holoprosencephaly with this hereditary hydrocephalus is discussed.

Three human melanoma cell lines were derived from tumor specimens and established in culture. CAL 1 originated from a bone marrow metastasis and CAL 4 and CAL 7 were derived from solid tumor fragments. CAL 1 and CAL 7 were cloned before establishment. Ultrastructural and chromosome analysis were carried out along with the response to nine chemotherapeutic agents at various concentrations. Survival curves after irradiation were also plotted. The uncloned cell line, CAL 4, displayed some differences from the other two cell lines as regards ploidy and response to chemotherapy. Greater spread of chromosome numbers were observed with this cell line, which contained both hypoploid and a hyperploid modal numbers. All three cell lines showed a relatively high extrapolation number after irradiation, suggesting that inherent cellular properties may be partly responsible for the clinical radioresistance of malignant melanomas.

Thirty couples having a DS child were typed for HLA-A and B antigens and compared to twenty control families and 176 blood donors. Although differences in frequency of B antigens exist between DS families and controls, they are not significant after correction for the number of antigens tested. No excessive HLA sharing was found in DS parents contrarily to two previous studies (Mattironi et al. 1981, Aymé et al. 1983).

Concerning the case history of an infant of diabetic mother, the authors analyse the possible relationship between a VATER association and a poorly controlled diabetes mellitus in the early weeks of pregnancy. Caudal regression syndrome, the most frequently observed malformation noted in infants of diabetic mothers and VATER association are the results of an "AXIAL MESODERMAL DYSPLASIA". Furthermore, the factors causing VATER association occur before the seventh week of pregnancy like those responsible for the anomalies observed in infants of diabetic mothers. It is possible that a poorly controlled diabetes mellitus before conception and in the early weeks of pregnancy could favour the appearance of VATER association.

A double labeling method with two levels of tritiated thymidine was used to study 6 patients with seborrheic keratosis, 1 with a fibroepithelial tumor of Pinkus, and 1 with basal cell nevus syndrome manifesting three pits on the palm of the hand. The two latter types of lesions, known to be able to evolve into basal cell carcinoma, had an increased S-phase duration (18 hr for the germ cells of the palmar pits) as compared with normal epidermis (10 hr). This situation was similar to that observed in basal cell carcinoma, However, the S phase was not lengthened in seborrheic keratosis (9.2 plus or minus 1.6), a benign tumor in which malignant transformation is extremely rare. S phase was also of normal duration in the benign eosinophilic septa of the tumor of Pinkus.

A 22-week pregnancy was terminated after discovery of serious echographic abnormalities. Fetal examination showed cyclopia, sacral meningocele, and syndactyly. The karyotype was 69,XXX. The parents had identical HLA alleles A1, A2, and Bw21. The mechanism of the triploidy was determined by chromosome marker analysis to be digyny. The association of triploidy with holoprosencephaly and the parents' identical immunological status are discussed.

Cytogenetic analysis of 58 cells originating in 7 mammary carcinomas indicated the existence of characteristic numerical and structural modifications, concerning the long arm of chromosome 1, chromosomes 4, 5, 7, 14, 15 and X, and the short arm of chromosome 16. Establishing the alterations of chromosomal "markers" could not only depend on selective phenomena relating to modifications of the genome but also on the preferential reassociations of heterochromatic segments.