[Fanconi's anemia: cytochemical and biochemical aspects (author's transl)].
Three cases of Fanconi's anemia are described in three siblings. Cytogenetic studies disclose increase of chromosomal structural anomalies (unclassifiable rearrangements, quadriradials, dicentrics) and suggest in the parents an increase in chromatid-type abnormalities. Further, the mother carries a 46,XX/47, XXX/48, XXXX mosaic and other kinds of aneuploidy. All enzymatic activities in erythrocytes (aerobic and anaerobic glycolysis) in the three children are high (even that of hexokinase), except pyruvate-kinase. These results are reminiscent of those found in other types of bone marrow dysfunctions. An uncomplete investigation of enzymes in leucocytes and platelets discloses activities within normal limits.
D000728:Androgens / Q000627:therapeutic use; D000741:Anemia, Aplastic / Q000473:pathology*; D001792:Blood Platelets / Q000201:enzymology; D002648:Child; D002869:Chromosome Aberrations; D004912:Erythrocytes / Q000201:enzymology; D005199:Fanconi Anemia / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D005260:Female; D006019:Glycolysis; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D010375:Pedigree
D000728:Androgens
L'anémie de fanconi: aspects cytogénétiques et biochimiques a propos d'une famille