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目的研究范可尼贫血（ＦＡ）的临床学、血液学和细胞遗传学的特征。方法培养ＦＡ患儿的外周血淋巴细胞并以丝裂霉素Ｃ（ＭＭＣ）诱导，以计数染色体自发断裂和诱发断裂，并计数姊妹染色单体互换（ＳＣＥ）。结果ＦＡ患儿的临床和血液学的表现是多样化的。自发性和ＭＭＣ诱发之染色体断裂明显高于正常。结论由于ＦＡ遗传学上的异质性，其遗传表型也多样化。因此，染色体断裂研究是一个诊断ＦＡ的非常重要的方法，基因互补分析能证实患者所携带的是何互补群。
Objective To study the clinical, hematological and cytogenetic characteristics of Fanconi anemia (FA). Methods Peripheral blood lymphocytes of children with FA were cultured and induced by mitomycin C (MMC) to count the chromosomal spontaneous rupture and induced rupture and count the sister chromatid exchange (SCE). Results The clinical and hematological manifestations of FA children were diverse. Spontaneous and MMC-induced chromosome breakage was significantly higher than normal. Conclusion Due to the genetic heterogeneity of FA, the genetic phenotype is also diverse. Therefore, the study of chromosome rupture is a very important method for the diagnosis of FA, and the complementation analysis of the gene can confirm what is the complementary group carried by the patient.