Peltomäki P, Knuutila S, Ritvanen A, Kaitila I, de la Chapelle A
Clin Genet. 1987 Jun;31(6):399-405. doi: 10.1111/j.1399-0004.1987.tb02832.x.
Pallister-Killian syndrome is a dysmorphic syndrome characterized by a tissue-limited mosaicism: a majority of fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. In this study, the interpretation of the extra chromosome as composed of two short arms of chromosome 12 is confirmed, using molecular methods. Furthermore, restriction fragment length polymorphisms indicate that the two arms are identical, which is compatible with the hypothesis of an isochromosome 12p. A new feature which may be important in understanding the mechanism of origin of the abnormality is described: the proportion of abnormal mitoses falls dramatically during long-term culture of fibroblasts.
帕利斯特-基利安综合征是一种畸形综合征，其特征为组织局限性嵌合体：大多数成纤维细胞有47条染色体，其中额外多了一条小的中着丝粒染色体，而淋巴细胞的核型是正常的。在本研究中，采用分子方法证实了额外染色体是由两条12号染色体短臂组成的。此外，限制性片段长度多态性表明这两条臂是相同的，这与等臂染色体12p的假说相符。描述了一个可能对理解异常起源机制很重要的新特征：在成纤维细胞的长期培养过程中，异常有丝分裂的比例急剧下降。
