Graham D A, Jewitt M M, Fitzgerald P H
Department of Paediatrics, Christchurch School of Medicine, Christchurch Hospital, New Zealand.
Clin Genet. 1992 Jan;41(1):36-8. doi: 10.1111/j.1399-0004.1992.tb03626.x.
We report a patient with trisomy 18 in all peripheral lymphocytes, mosaicism in cultured fibroblasts, mild nonspecific dysmorphic features, and normal intelligence. Trisomy 18 mosaicism with complete peripheral lymphocytic trisomy has not been previously described. The karyotype of lymphocytes is not diagnostic in the absence of congruent morphologic features.
我们报告了一名患者，其所有外周淋巴细胞均存在18三体，培养的成纤维细胞存在嵌合体现象，有轻度非特异性畸形特征，且智力正常。此前尚未描述过伴有外周淋巴细胞完全三体的18三体嵌合体。在缺乏一致形态学特征的情况下，淋巴细胞的核型并无诊断价值。
