Wilson M G, Towner J W, Forsman I
Clin Genet. 1980 May;17(5):335-40. doi: 10.1111/j.1399-0004.1980.tb00159.x.
A girl with trisomy-21/normal mosaicism has been observed for approximately 10 years. Her appearance is reminiscent of, but not typical for Down's syndrome, and her intellectual abilities are impaired but not to the same severe degree expected in Down's syndrome. These observations are consistent with the belief that, in persons ascertained by clinical resemblance to Down's syndrome. The cytogenetic studies performed longitudinally demonstrated a significant decrease in the proportion of blood lymphocytes showing the trisomic line. The maximal decrease occurred in the first year of life. A direct preparation from the bone marrow and a fibroblast culture at 2.5 months showed 3 and 4% trisomic cells, respectively, corresponding to the level of trisomic cells from the blood cultures during the second year of life.
一名患有21三体综合征/正常嵌合体的女孩已被观察了约10年。她的外貌让人联想到唐氏综合征，但并不典型，其智力能力受损，但程度不及唐氏综合征预期的严重程度。这些观察结果与以下观点一致，即在因临床症状类似唐氏综合征而确诊的患者中。纵向进行的细胞遗传学研究表明，显示三体细胞系的血液淋巴细胞比例显著下降。最大降幅出现在生命的第一年。出生2.5个月时从骨髓直接制备的样本和成纤维细胞培养物分别显示3%和4%的三体细胞，这与生命第二年血液培养中的三体细胞水平相当。
