Becher R, Mahmoud H K, Schaefer U W, Schmidt C G
Cancer Genet Cytogenet. 1985 Nov;18(3):229-34. doi: 10.1016/0165-4608(85)90087-1.
A patient with CML in chronic phase was admitted to our center for bone marrow transplantation. Cytogenetic analysis of bone marrow cells revealed a Ph chromosome due to a standard t(9;22) and a Robertsonian t(14;15). This Robertsonian translocation was also found in PHA-stimulated lymphocytes of the patient's sister, the donor of the bone marrow. A chromosome study of the whole family proved the constitutional character of the t(14;15) abnormality and showed that it was inherited from the father's side. All family members were phenotypically normal with normal mental status. Female carriers of the t(14;15), as well as wives of male carriers, had a high incidence of miscarriages and early death of their offspring. The occurrence of Ph-positive CML in a patient with a Robertsonian t(14;15) might indicate increased risk for the development of leukemia in patients with this constitutional chromosome abnormality. This assumption however, is limited by the rarity of the Robertsonian translocations.
一名慢性期慢性髓性白血病(CML)患者因骨髓移植入住我们中心。对骨髓细胞进行的细胞遗传学分析显示,由于标准的t(9;22)和罗伯逊易位t(14;15)出现了费城染色体(Ph染色体)。在该患者的妹妹(骨髓供体)经PHA刺激的淋巴细胞中也发现了这种罗伯逊易位。对整个家族的染色体研究证实了t(14;15)异常的遗传性,并表明它是从父亲一方遗传而来。所有家族成员表型正常,精神状态正常。t(14;15)的女性携带者以及男性携带者的妻子流产和后代早亡的发生率较高。一名患有罗伯逊易位t(14;15)的患者发生Ph阳性CML可能表明,患有这种遗传性染色体异常的患者患白血病的风险增加。然而,这一假设因罗伯逊易位的罕见性而受到限制。