Brunel D, Donnadio D, Emberger J M, Astruc J, Manassero J
J Genet Hum. 1977 Oct;25(3):177-88.
Two brothers developed acute leukemia, one at the age of 7 months and the other at the age of 14 months. Both suffered from a staturoponderal retardation and the same malformation syndrome. The karyotype carried out only on the second child revealed breaks and chromatid changes. A diagnosis of Fanconi's anaemia can be discarbed since no blood cytopenia preceded the leukemia. Finally, the diagnosis of Bloom's syndrome prevailed despite the absence of telangiectatic erythema and the atypical chromosomal anomalies.
两兄弟患了急性白血病,一个7个月大,另一个14个月大。两人都有身体发育迟缓以及相同的畸形综合征。仅对第二个孩子进行的核型分析显示有断裂和染色单体变化。由于白血病之前没有血细胞减少,可排除范科尼贫血的诊断。最后,尽管没有毛细血管扩张性红斑和非典型染色体异常,但仍诊断为布卢姆综合征。