Shiono H, Kadowaki J I, Tsuneta H, Nagai B, Nanbu H
Am J Dis Child. 1977 May;131(5):522-4. doi: 10.1001/archpedi.1977.02120180036005.
The case presented here may be the first identified report of Down syndrome with 21 trisomy in one child of triplets. One triplet died at 1 month of age; his facial appearance was not typical of Down syndrome. Detailed testing of blood groups suggested identical origin in the remaining two children. However, the fluorescent banding technique of chromosome, one-way mixed lymphocyte culture test, and HLA typing were suggestive of dizygotic orgin. Skin transplant studies supported this contention.
本文所呈现的病例可能是首例被确认的三胞胎之一患有21三体唐氏综合征的报告。其中一个三胞胎在1个月大时死亡;其面部外观并非典型的唐氏综合征表现。血型的详细检测表明其余两个孩子来源相同。然而,染色体荧光带技术、单向混合淋巴细胞培养试验和HLA分型提示为二卵双生来源。皮肤移植研究支持了这一观点。