Jones G R, Weaver M, Laug W E
Am J Pediatr Hematol Oncol. 1987 Summer;9(2):153-7. doi: 10.1097/00043426-198722000-00009.
Two normal appearing infants presented in the newborn period with elevated white blood cell counts and immature blast cells. Initial bone marrow karyotype analysis showed trisomy of chromosome 21 in all metaphases. In both patients blastemia spontaneously resolved and percentage of trisomy 21 cells decreased. One infant required multiple exchange transfusions and pericardiotomy. The other patient had undifferentiated blasts and continued to have subtle hematopoietic abnormalities greater than 2 years later. Both children have had normal growth and development. The clinical course of these patients emphasizes the need for aggressive supportive care without use of cytotoxic drugs in phenotypically normal newborns with blastemia showing trisomy 21.
两名外观正常的婴儿在新生儿期出现白细胞计数升高和未成熟母细胞。初始骨髓核型分析显示所有中期细胞均存在21号染色体三体。两名患者的母细胞血症均自发缓解，21号染色体三体细胞百分比下降。一名婴儿需要多次换血和心包切开术。另一名患者有未分化的母细胞，两年多后仍有轻微的造血异常。两名儿童生长发育均正常。这些患者的临床过程强调，对于表型正常、患有母细胞血症且显示21号染色体三体的新生儿，在不使用细胞毒性药物的情况下，需要积极的支持治疗。
