title: Chromosome abnormalities in bone marrow of Fanconi anemia patients.
abstract: We report the clonal chromosome abnormalities of five patients with Fanconi anemia (FA). In one with myelodysplastic syndrome (MDS), an abnormal clone was present in the bone marrow (BM): 47,XY,trp(1)(q32q44), + mar. Two had acute myeloblastic leukemia (AML), one with monosomy 7 and the other with 46,XY,add(1)(p34),del(7)(p13). In the two others without signs of MDS or AML, pseudodiploidy with 46,XX,-5, +8 and 46,XX, +5, -21 were present, respectively. The significance of these abnormalities is discussed.
authors.affiliation: U 301 INSERM, Institut de Génétique Moléculaire, Paris, France.
authors.forename: R
authors.initials: R
authors.lastname: Berger
authors.forename: M
authors.initials: M
authors.lastname: Le Coniat
authors.forename: G
authors.initials: G
authors.lastname: Schaison
mesh_terms: D000328:Adult; D001853:Bone Marrow / Q000473:pathology*; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002891:Chromosomes, Human, Pair 21; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D005199:Fanconi Anemia / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000209:etiology / Q000235:genetics*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000209:etiology / Q000235:genetics*; D011289:Preleukemia / Q000235:genetics; D012303:Ring Chromosomes