Ginsberg J, Bofinger M K, Roush J R
Am J Ophthalmol. 1977 Jun;83(6):874-80. doi: 10.1016/0002-9394(77)90918-7.
A 2,990-g newborn female mongoloid had narrow palpebral fissures with a mongoloid slant and Brushfield's spots. Pathologic ocular findings resembled those found in patients with trisomy 21 syndrome. Many lesions reflected excessive genetic material and qualitatively resembled those lesions in trisomy 13 and 18 syndromes.
一名体重2990克的蒙古人种女新生儿,睑裂狭窄,呈蒙古人种倾斜,并有Brushfield斑。眼部病理检查结果与21三体综合征患者的相似。许多病变反映了过量的遗传物质,在性质上与13三体和18三体综合征中的病变相似。