Gericke G S, Hesseling P B, Brink S, Tiedt F C
S Afr Med J. 1977 Mar 19;51(12):369-74.
Electron microscopical and haematological investigation of peripheral blood has shown a higher percentage of leukaemia-like nuclear ultrastructural abnormalities in the leucocytes of 30 individuals with Down's syndrome (mean 6.3%) than in normal controls (mean less than 1%). Most of these aberrations consisted of nuclear membrane abnormalities. Red cell folate values were very low in the group with Down's syndrome. Although mean serum folate and vitamin B12 levels were normal in this group, these individuals displayed increasing macrocytosis and decreasing serum folate levels with age. The whole group with Down's syndrome showed an increased mean corpuscular volume (MCV). The percentage of ultrastructural abnormalities did not correlate with folate levels when they were analysed individually. The existence of nuclear membrane abnormalities and folate deficiency, both of which may be associated with increased chromosome breakage, may be partly responsible for the increased leukaemia risk in patients with Down's syndrome.
对30名唐氏综合征患者外周血进行的电子显微镜和血液学研究显示，其白细胞中白血病样核超微结构异常的比例（平均6.3%）高于正常对照组（平均低于1%）。这些异常大多由核膜异常组成。唐氏综合征组的红细胞叶酸值非常低。尽管该组血清叶酸和维生素B12的平均水平正常，但这些个体随着年龄增长出现巨红细胞症增加和血清叶酸水平降低的情况。整个唐氏综合征组的平均红细胞体积（MCV）增加。单独分析时，超微结构异常的比例与叶酸水平无关。核膜异常和叶酸缺乏的存在都可能与染色体断裂增加有关，这可能是唐氏综合征患者白血病风险增加的部分原因。
