Tommerup N, Mortensen E, Nielsen M H, Wegner R D, Schindler D, Mikkelsen M
John F. Kennedy Institute, Glostrup, Denmark.
Hum Genet. 1993 Oct;92(4):339-46. doi: 10.1007/BF01247331.
A high frequency of spontaneous chromosomal breakage, endomitosis, endoreduplication and hypersensitivity toward both the alkylating agent Trenimon and the radiomimetric drug bleomycin was observed in phytohemagglutinin-stimulated peripheral lymphocytes from a girl with craniosynostosis, microcephaly, ptosis, bird-like facies, and moderate mental retardation. We also observed abnormal chromosomal spiralization and some aspects of abnormal cellular division. Several fruitless attempts were made to establish a cell line. The parents were consanguineous, supporting the existence of a new, rare, autosomal, recessive condition in man. The mutation might involve a gene involved in DNA repair and/or regulation of the mitotic cycle.
在一名患有颅缝早闭、小头畸形、上睑下垂、鸟样面容和中度智力发育迟缓的女孩的植物血凝素刺激外周淋巴细胞中，观察到高频率的自发染色体断裂、核内有丝分裂、核内复制以及对烷化剂曲磷胺和放射增敏药物博来霉素的超敏反应。我们还观察到异常的染色体螺旋化和细胞分裂的一些异常情况。为建立细胞系进行了几次无果的尝试。父母是近亲，这支持了人类中一种新的、罕见的常染色体隐性疾病的存在。该突变可能涉及参与DNA修复和/或有丝分裂周期调控的基因。
