The blastic phase of a Ph1-positive chronic myeloid leukemia (CML) is often characterized by hyperdiploidy and sometimes by the presence of a double Ph1, suggesting a pattern of clonal evoluation. In the case reported here, the caryotype at the time of diagnosis in 1970 was 46, XY, Ph1. In 1975, after a blastic evolution followed by a drug-induced hematologic remission, cytogenetic studies revealed a chromosomal mosaic: 47, XY, 2 Ph1 and 51, XY, 3 Ph1, 3 C, the clone with 3 Ph1 representing approximately 20% of the mitotic cells. Furthermore, with the Giemsa banding technique, it was possible to identify the 3 supplementary C chromosomes of the 51 chromosomes clone, as being an 8, a 9 and 9 q + respectively. This observation illustrates the succession of chromosomal anomalies occurring during the evolution of CML with, in this case, the unusual appearance of a clone with 3 Ph1.

The authors analyse the various high-risk factors for breast cancer which have been described by many authors and their relative importance and intricacies. Some of these factors are concerned with the age of the patient, some with the time the periods started, some with the time the menopause occured and whether this was natural or artificial.

A case of Bourneville's disease is described, which is unusual because of the absence of clinical symptomatology until death occurred in the ninth month of life. Moreover, the post-mortem examination revealed the presence of cortical plaques of tuberous sclerosis which were in number, size and extension much more pronounced than in any previously published cases. On the basis of extensive topographical preparations of continuous sections taken from two cerebral hemispheres, the author provides an exact spatial representation of the tuberous sclerotic lesions and demonstrates the almost complete integrity of the central grey nuclei and the rhinencephalic complex. From data collected on numerous published infantile cases, in which he records the date of the onset of epilepsy, and, in addition, making use of neuropediatric and electrophysiological studies, he attempts to demonstrate that the appearance of the first neurological symptoms is related to certain stages of the cerebral corticalisation. So far as genetic factors are concerned, the family histroy did not provide any evidence of disease in ancestors, and a clinical examination of the parents did not disclose any stigmata of Bourneville's disease. This case can thus be considered as sporadic, due to a new mutation.

The author reviews the literature about the inheritance of retinoblastoma and notes an increase of both the frequency of the affection and the chance of survival. He then estimates the genetic risks for the descendency in all cases of sporadic and familial retinoblastoma.

A case of chronic myelogenous leukemia with myelofibrosis and failure to respond to busulfan therapy has been reported. An abnormal clone with a rearrangement of four chromosomes, 46, XX, t(1;9) (q21; q24), t(6;22) (q26;q11) was observed. The possible significance of these chromosome abnormalities which are different from the t(9;22) translocation in C.M.L. is discussed.

Numerous skin lesions: sebaceous hyperplasias, benign acanthoma, keratoacanthomas and squamous cell epitheliomas appeared on the face, especially on the nose, on the cheeks and around the lips of a 45-year-old obese man with mild diabetes. In 1969, an adenocarcinoma had been found in the rectosigmoid and another one in the colon. In 1974, an excision of a well-differenciated epidermoid carcinoma was performed in the right external auditory meatus. A rectoscopy showed a micropolyp at the rectosigmoid junction. In 1975, an abdominal exploration was performed following a sudden relapse of about 50 skin lesions in the face, partly sebaceous adenomas, partly sebaceous gland epitheliomas, and about 10 precancerous lesions on the dorsum of the hands. A villous adenoma of the colon was removed. Inheritance appears to the autosomal dominant with variability in the expressiveness of the cutaneo-intestinal symptoms.