Karyotype evolution in the bone marrow of a patient with Fanconi anemia: breakpoints in clonal anomalies of this disease.
A 21-year-old Fanconi anemia patient developed refractory anemia. Laboratory studies revealed a transitory increased platelet count and a typical del(5q). Bone marrow karyotyping showed a -6, +der(6)t(1;6)(q12;p25) rearrangement and, two years later, a mosaic -6, +der(6),t(1:6)(q12;p25)/-2, +der 2), t(1;2)(q12;q37) constitution. The chromosome mechanism operating in this patient is discussed.
Huret
J L
JL
Departement de Hématologie et Oncologie Médicale, Hôpital Jean Bernard, Poitiers, France.
Tanzer
J
J
Guilhot
F
F
Frocrain-Herchkovitch
C
C
Savage
J R
JR
D000328:Adult; D000741:Anemia, Aplastic / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology* / Q000648:ultrastructure; D002467:Cell Nucleus / Q000648:ultrastructure; D002869:Chromosome Aberrations / Q000473:pathology*; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1 / Q000648:ultrastructure*; D002895:Chromosomes, Human, Pair 5 / Q000648:ultrastructure*; D005199:Fanconi Anemia / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D012729:Sex Chromosome Aberrations / Q000473:pathology; D014960:X Chromosome / Q000648:ultrastructure*