Acute megakaryoblastic leukemia in a patient with a familial pericentric inversion of chromosome 8, inv(8)(p23.1q13).
A 7-month-old girl was diagnosed with acute megakaryoblastic leukemia and, at the time of diagnosis, the karyotype was 48-50,XX,+4,+5,del(5)(p13),del(6)(q14), +8,inv(8)(p23.1q13),der(13) t(13;?;?),+19,-20,+21,+22,+mar [cp20]. At relapse, there was clear evidence of her constitutional status as a carrier of the pericentric inversion (8)(p23.1q13). It was a familial inversion affecting the patient's maternal lineage; a history of cancer and bleeding anomalies in carriers of the inversion led us to consider their nonrandom association with these pathologies.
Martín Ramos
M L
ML
Servicio de Genética, Centro Materno-Infantil, Hospital Universitario 12 de Octubre, Madrid, Spain.
Barreiro
E
E
López-Pérez
J
J
González-Aguilera
J J
JJ
Fernández-Peralta
M A
MA
D002503:Centromere / Q000235:genetics; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics*; D010375:Pedigree