Cytogenetic studies in four cases of Fanconi's anemia (author's transl)

In two sibships, four patients with Fanconi's anaemia were studied cytogenetically. Interfamilial variations of the frequency of chromosome breakage and rearrangements were found, suggesting the heterogeneity of the disease. Variations of chromosomal abnormalities have also been found during th...

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Bibliographic Details
Published in:	Nouvelle revue francaise d'hematologie Vol. 15; no. 5; p. 539
Main Authors:	Berger, R, Bussel, A, Schenmetzler, C
Format:	Journal Article
Language:	French
Published:	France 01-09-1975
Subjects:	Abnormalities, Multiple - diagnosis Anemia, Aplastic - drug therapy Anemia, Aplastic - genetics Bone Marrow Cells Child Cortisone - therapeutic use Escherichia coli - isolation & purification Fanconi Anemia - genetics Humans Karyotyping Male Norethandrolone - therapeutic use Sepsis - microbiology Thrombocytopenia - drug therapy
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Summary:	In two sibships, four patients with Fanconi's anaemia were studied cytogenetically. Interfamilial variations of the frequency of chromosome breakage and rearrangements were found, suggesting the heterogeneity of the disease. Variations of chromosomal abnormalities have also been found during the course of the disease. An abnormal 47 chromosomes clone has been observed in the bone marrow cells from one patient. A mechanism of somatic segregation is probably involved in the constitution of that clone.
ISSN:	0029-4810