Bass H N, Fox M, Wulfsberg E, Sparkes R S, Crandall B F
Clin Genet. 1982 Dec;22(6):327-30. doi: 10.1111/j.1399-0004.1982.tb01848.x.
Karyotypes of blood and skin fibroblasts at ages 3 and 8.5 years had shown non-mosaic trisomy 18 in a male now of age 19. Because of his prolonged survival and an atypical phenotype, skin fibroblast cultures from a new biopsy were established at age 18, and only normal 46,XY cells were observed, while peripheral blood lymphocytes still demonstrated 47,XY, + 18. This patient and six others with trisomy 18 mosaicism illustrate the advisability of looking for such a pattern in individuals whose phenotype in early life is not fully consistent with the trisomy 18 syndrome. Additional clues to the presence of trisomy 18 mosaicism are male sex, survival beyond 2 years and lack of fingertip arches.
该男性患者3岁和8.5岁时血液及皮肤成纤维细胞的核型显示为非嵌合型18三体，现患者19岁。由于其生存期延长且表型不典型，18岁时重新进行活检并建立皮肤成纤维细胞培养，结果仅观察到正常的46,XY细胞，而外周血淋巴细胞仍显示为47,XY, + 18。该患者及其他6例18三体嵌合型患者表明，对于早期生命表型与18三体综合征不完全相符的个体，有必要寻找这种模式。18三体嵌合型存在的其他线索包括男性性别、存活超过2年以及无指尖弓。
