Kawashima H
Am J Med Genet. 1987 Jun;27(2):285-9. doi: 10.1002/ajmg.1320270206.
We report on a 3-8/12-year-old boy with the Pallister/Teschler-Nicola/Killian syndrome and previously unreported bilateral skeletal anomalies consisting of small feet and short but otherwise normal humeri, ulnae, femora, and fibulae. His peripheral blood chromosomes were normal; however, 47,XY,+i(12p) was found in 100% of fibroblasts.
我们报告了一名3岁8个月大的患有帕利斯特/泰施勒-尼古拉/基利安综合征的男孩，其存在双侧骨骼异常，包括小脚以及短小但其他方面正常的肱骨、尺骨、股骨和腓骨，此前未见相关报道。他的外周血染色体正常；然而，在100%的成纤维细胞中发现了47,XY,+i(12p)。
