[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 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.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000741:Anemia, Aplastic / Q000188:drug therapy / Q000235:genetics*; D001854:Bone Marrow Cells; D002648:Child; D003348:Cortisone / Q000627:therapeutic use; D004926:Escherichia coli / Q000302:isolation & purification; D005199:Fanconi Anemia / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009639:Norethandrolone / Q000627:therapeutic use; D018805:Sepsis / Q000382:microbiology; D013921:Thrombocytopenia / Q000188:drug therapy
D009639:Norethandrolone; D003348:Cortisone
Anomalies chromosomiques et anémie de Fanconi. Etude de 4 cas