Genetic studies on hydatidiform moles. II. The origin of complete moles.

An investigation of 50 histologically complete hydatidiform moles was made by examining the molar tissue after termination of pregnancy. Attempts were made to study chromosomes and 11 polymorphic enzymes in the moles and in the blood of the patient and her spouse, although not all studies were possible on every case. Useful information about the origin of the mole was obtained in 28 cases.

Genetic studies on hydatidiform moles. I. The origin of partial moles.

A study was designed to investigate the genetic origin of hydatidiform moles. Fifty-nine specimens were obtained and, on a histological basis, separated into two entities: complete and partial. The study of the genetic origin of the 15 partial moles, using cytogenetic and biochemical markers, is described.

Monosomy 7 in childhood: a myeloproliferative disorder.

Between 1976 and 1979 a myeloproliferative disease associated with cells monosomic for chromosome number 7 in the bone marrow was seen in six boys aged 5 1/2 months to 8 years (median 10 months). Presenting features included hepatosplenomegaly (5/6), respiratory infections (4/6), pallor (2/6) and skin infections (1/6). Haematological features included a leucoerythroblastic anaemia with leucocytosis and thrombocytopenia, and a hyperplastic marrow with a slight excess of blasts.

Chromosomes 1 in 14 ovarian cancers. Heterochromatin variants and structural changes.

Structurally rearranged chromosomes 1 were found in 9 out of 14 ovarian carcinomas and may also have been present in three others. In the remaining two, pericentric inversions involving the heterochromatic regions of chromosomes 1 were seen, and were also identified in one of the chromosomes 1 in the patient's normal cells (lymphocytes). Altogether, heterochromatin variants (variation in size and/or the presence of a pericentric inversion) were seen in the tumour cells of eight cases, and one or both types of variation were identified in the normal cells of six of these.