Martín Ramos M L, Barreiro E, López-Pérez J, González-Aguilera J J, Fernández-Peralta M A
Servicio de Genética, Centro Materno-Infantil, Hospital Universitario 12 de Octubre, Madrid, Spain.
Cancer Genet Cytogenet. 1998 Aug;105(1):74-8. doi: 10.1016/s0165-4608(97)00478-0.
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.
一名7个月大的女孩被诊断为急性巨核细胞白血病，诊断时的核型为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]。复发时，有明确证据表明她的体质状况为臂间倒位(8)(p23.1q13)的携带者。这是一种影响患者母系血统的家族性倒位；倒位携带者的癌症和出血异常病史使我们考虑它们与这些疾病的非随机关联。
