English C J, Goodship J A, Jackson A, Lowry M, Wolstenholme J
Regional Genetics Service, University of Newcastle upon Tyne, UK.
J Med Genet. 1994 Mar;31(3):253-4. doi: 10.1136/jmg.31.3.253.
We present the case of a mentally normal 7 year old girl with short stature, scoliosis, atrial septal defect, and dysmorphic features including linear pigmented streaks on the forearms and lower legs. Chromosome analysis of cultured fibroblasts showed trisomy 12 in 9% and 13% of cells from two skin biopsies. Two trisomy 12 cells were found in lymphocytes after analysis of 500 metaphases. Her clinical features are compared with those of other liveborn cases of trisomy 12 mosaicism and the problems of prenatal diagnosis of such an abnormality are discussed.
我们报告了一名7岁智力正常的女童病例，她身材矮小、患有脊柱侧弯、房间隔缺损，并有畸形特征，包括前臂和小腿上的线状色素沉着条纹。对培养的成纤维细胞进行染色体分析显示，两次皮肤活检的细胞中分别有9%和13%的细胞存在12号染色体三体。在分析了500个中期细胞后，在淋巴细胞中发现了两个12号染色体三体细胞。将她的临床特征与其他12号染色体三体嵌合体活产病例的特征进行了比较，并讨论了这种异常情况的产前诊断问题。
