与嵌合非整倍体相关的有丝分裂紊乱。

Mitotic disturbance associated with mosaic aneuploidies.

作者信息

Miller K, Müller W, Winkler L, Hadam M R, Ehrich J H, Flatz S D

机构信息

Abteilung Humangenetik, Medizinische Hochschule, Hannover, Federal Republic of Germany.

出版信息

Hum Genet. 1990 Mar;84(4):361-4. doi: 10.1007/BF00196235.

DOI:10.1007/BF00196235

PMID:2307459

Abstract

The association of various unsystematic aneuploidies with premature centromere division (PCD) was observed in a patient with conspicuous clinical features and combined immunodeficiency. Trisomies and monosomies of almost all autosomes and gonosomal aberrations were found separately or in combination in a majority of the proband's lymphocytes and fibroblasts. The chromosome number varied from 44 to 50. A high proportion of the metaphases showed PCD or had the appearance of C-anaphases. These findings probably represent a new mutant affecting mitosis and causing mosaic aneuploidies.

摘要

在一名具有明显临床特征和联合免疫缺陷的患者中，观察到各种非系统性非整倍体与着丝粒过早分裂（PCD）之间的关联。在该先证者的大多数淋巴细胞和成纤维细胞中，几乎所有常染色体的三体和单体以及性染色体畸变单独或组合出现。染色体数目从44条到50条不等。高比例的中期细胞显示出PCD或具有C后期的外观。这些发现可能代表了一种影响有丝分裂并导致嵌合性非整倍体的新突变。