Familial pericentric inversion of chromosome 1 in a boy with Goldenhar's syndrome.
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Child↗
Biomedical subjects
C Stahl-Maugé
Publications and source records attributed to C Stahl-Maugé.
Mutagenic effects of isonicotinic acid hydracide in Fanconi's anemia.
Isonicotinic acid hydracide (INH) increases substantially the chromosomal instability in Fanconi's anemia (FA) cells. The same concentrations of INH do not significantly break chromosomes in heterozygous or normal cells. INH does not induce alkylation or cross-links in the DNA, like other mutagens known to increase breakage in FA cells. Possible mechanisms of the effect of INH are discussed. One consequence of this experiment is the possibility of an exact and doubtless prenatal diagnosis of a homozygous FA fetus.
Adolescent↗
Fanconi's anemia: terminal leukemia and "Forme fruste" in one family.
Two adult sisters are described. One with a full clinical, hematological and cytogenetic picture of Fanconi's anemia died of monocytic leukemia. The other woman has several malformations and clinical signs which are found in Fanconi's anemia, but does not show any hematological disorder or sign of bone marrow insufficiency. Cytogenetic findings in this case are comparable to those typical cases with Fanconi's anemia. This case is therefore considered to represent a "forme fruste" of Fanconi's anemia.
Abnormalities, Multiple↗
[Fanconi's anemia (author's transl)].
A 6.6 years old girl is described who shows the typical symptom complex of Fanconi's anemia. Pathogenesis, clinical findings, cytogenetic results, therapy and prognosis of Fanconi's anemia are discussed.
Adrenal Cortex Hormones↗
The problem of partial endoreduplication.
Partial endoreduplication (PE) as defined by Lejeune et al. (1966) has only been found in a few instances. Similar configurations, also called PEs, seem to originate from a different process. A series of 12 PEs is presented in this paper, discovered in metaphases from healthy individuals, and in patients with or without chromosome-breakage syndrome and after treatment with chromosome-breaking agents. Interpretations of the microscopic appearance of each configuration led to the conclusion that there are three different modes of origin for such rare events, one being true partial endoreduplication, the second a partial pseudoendoreduplication, and the third a homologous triradial chromatid translocation.
Chromosome Aberrations↗
Head and neck carcinoma models. In vivo reproduction in athymic mice and in vitro culture.
683 tumour fragments from 63 head and neck carcinoma patients were cultured in vitro. Two laryngeal carcinomas and two salivary gland carcinomas were established into permanent cell lines. Malignancy of these cultured cells was proved by cloning, by chromosomal analysis and by transplantation into athymic (nu/nu) mice. Experiments demonstrating preservation of histological, biochemical and antigenic properties in the tumour models counter the objection that tumour-specific characteristics may be lost.
Animals↗