Bradley R A, Newsome J L, Krauss J S, Hahn D A, Baisden C R
South Med J. 1986 Sep;79(9):1187. doi: 10.1097/00007611-198609000-00043.
We have reported a case of a 4-month-old girl who died with trisomy 13. Nuclear projections in polymorphonuclear leukocytes are diagnostically important in this syndrome and are not identified by automated leukocyte differential counting. The presence of polymorphonuclear leukocyte nuclear projections on the blood smear was identified only after the results of karyotyping were known. Recently, the importance of physician review of blood smears in anemia has been challenged. We believe this case, however, reaffirms the importance of physician blood smear review in suspected cytogenetic disease.
我们报告了一例患有13三体综合征并死亡的4个月大女童病例。多核白细胞中的核突出在该综合征中具有诊断意义，而自动白细胞分类计数无法识别这些核突出。仅在已知核型分析结果后，才在血涂片上发现了多核白细胞核突出。最近，医生对贫血患者血涂片进行检查的重要性受到了质疑。然而，我们认为该病例再次证实了医生对疑似细胞遗传学疾病患者血涂片进行检查的重要性。
