Patil S R, Bosch E P, Hanson J W
Am J Med Genet. 1983 Mar;14(3):453-60. doi: 10.1002/ajmg.1320140308.
Trisomy 12 mosaicism was found in a 36-year-old woman with minor anomalies, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a "complete" trisomy 12 in a liveborn individual.
在一名36岁的女性中发现了12号染色体三体嵌合体，该女性存在轻微异常、神经肌肉异常和中度智力障碍。12号染色体三体存在于13%的淋巴细胞中，但不存在于皮肤成纤维细胞中。本文回顾了先前关于dup(12p)和dup(12q)的报道。据我们所知，这是第一例关于活产个体中“完全”12号染色体三体的报告。
