Adams R H, Lemons R S, Thangavelu M, Le Beau M M, Christensen R D
Department of Pediatrics, University of Utah Medical Center, Salt Lake City 84132.
Am J Hematol. 1989 Aug;31(4):273-9. doi: 10.1002/ajh.2830310412.
A newborn with Down syndrome was noted on the 1st day of life to have an elevated white blood cell count of 79,900/mm3 with 62% lymphoblasts and a platelet count of 61,000/mm3, consistent with either transient myeloproliferative disorder of Down syndrome (TMD) or acute leukemia. Karyotype analysis of a bone marrow aspirate revealed that 20% of the cells had a 47,XY, +21 karyotype, and 80% had a 47,XY, +21, del(5)(q13q31) complement. Cytochemical and immunophenotyping of the peripheral blasts were consistent with the presence of an acute undifferentiated precursor blast clone. Results of clonogenic assays of hematopoietic progenitors from this patient's bone marrow were similar to those of patients with TMD. This patient's hematologic abnormalities resolved spontaneously without treatment by week 10 of life. This is the first report of an interstitial deletion of 5q associated with a hematologic abnormality present in an infant at birth.
一名患有唐氏综合征的新生儿在出生第一天被发现白细胞计数升高至79,900/mm³，其中62%为淋巴母细胞，血小板计数为61,000/mm³，这与唐氏综合征相关的短暂性骨髓增殖性疾病（TMD）或急性白血病相符。骨髓穿刺的核型分析显示，20%的细胞具有47,XY, +21核型，80%具有47,XY, +21, del(5)(q13q31)互补型。外周血母细胞的细胞化学和免疫表型分析与急性未分化前体母细胞克隆的存在一致。该患者骨髓造血祖细胞的克隆形成试验结果与TMD患者相似。该患者的血液学异常在出生后第10周未经治疗即自发缓解。这是首例与出生时婴儿存在的血液学异常相关的5q间质缺失的报告。
