Biomedical subjects
Publications and source records attributed to C Maximilian.
Investigation of an intensely consanguinized family in which three children were born with Down's syndrome (in one of them the diagnosis was uncertain) suggests the existence of a gene that favours chromosomal non-disjunction. In the same family there were two children with multiple malformations and two with neoplasia.
A case of Turner's syndrome clinically and cytogenetically diagnosed in a 15-year old girl is reported. At age 4 the girl was hospitalized for renal malformations (doubling of the urethra and its ectopic opening). Laparatomy revealed a small tumoral formation which was removed. The diagnosis established anatomo-histologically was of sympathoblastoma. Since the tumor is genetically conditioned by an autosomal mutation, association of the gonosomial anomaly and sympathoblastoma is supposed to be fortuitious though it is not improbable that the tumor be the result of an embryonar disorder favourized by the chromosomal anomaly.
The work presents the clinical and cytogenetic findings in a 16 year-old female-patient with Turnerian phenotype and 46 XX, del(X)(q 13 leads to q ter) caryotype. The authors discuss the difficulties of correlating the caryotype to the phenotype in X chromosome structural aberation cases.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The incidence of chromosomal aberrations induced by 131I in the mouse foetus was assessed using the transplacentar micronuclei test (the incidence of the micronuclei in foetal liver). For comparison the standard micronuclei test was applied to the maternal bone marrow. A distinct quantitative difference was found with respect to the incidence of micronuclei in the foetus and the mother in response to doses of 131I as low as those used in clinical investigation. The less marked mutagenic effect of 131I on the foetus may be accounted for by the massive concentration of 131I in the mothers' thyroid and its increased renal clearance. A protective role might be also played by the placenta.
Explore the source record for details and available documents.
The authors present a family in which the father has brachymetacarpy and brachymetatarsy and the mother has a 13/20 translocation. A baby was born with multiple malformations similar to the trisomy syndrome for the short arms of chromosome 20. The genetic consequences of the translocation are discussed.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
A 46, XY/46, XY 18 p-mosaic was encountered in a child with cranio-facial dysmorphia, anomalies of the fingers, metaphyseal and epiphyseal dysgenesis, psycho-motor backwardness, anomalies of EEG and convulsions.