Tabachnik E, Garty R, Zaizov R, Chemke J
Acta Haematol. 1979;62(2):90-3. doi: 10.1159/000207546.
Myeloproliferative disease of childhood is frequently associated with chromosomal anomalies, usually of the C group. Clinical features are similar to those of the juvenile type of chronic myeloid leukemia. A child with this disease is described. Marked myeloid proliferation, anemia, thrombocytopenia and hepatosplenomegaly were present; leukocyte alkaline phosphatase and fetal hemoglobin were moderately elevated. Chromosome analysis of bone marrow cells revealed a mosaicism 47,XX,+21/46,XX. Down's syndrome was ruled out by the child's normal phenotype and dermatoglyphic analysis. The cytogenetic finding is probably evidence for the clonal origin of the trisomy 21 cell line.
儿童骨髓增殖性疾病常与染色体异常相关，通常为C组染色体异常。临床特征与青少年型慢性髓性白血病相似。本文描述了一名患有该疾病的儿童。该患儿存在明显的髓系增殖、贫血、血小板减少和肝脾肿大；白细胞碱性磷酸酶和胎儿血红蛋白中度升高。骨髓细胞染色体分析显示为47,XX,+21/46,XX嵌合体。患儿正常的表型和皮纹分析排除了唐氏综合征。细胞遗传学发现可能是21三体细胞系克隆起源的证据。
