IIA 型多发性内分泌腺瘤患者的环状染色体

Ring chromosome in a patient with MEN IIA S.

作者信息

Temperani P, Savin E, Aloesio R, Forabosco A

机构信息

Cattedra di Istologia ed Embriologia Generale, Instituto Anatomia Umana Normale, Università di Modena, Italy.

出版信息

Cancer Genet Cytogenet. 1989 Jan;37(1):23-7. doi: 10.1016/0165-4608(89)90070-8.

DOI:10.1016/0165-4608(89)90070-8

PMID:2563670

Abstract

Three patients with MEN IIA S belonging to the same family, which has five affected subjects in two generations, have been studied. Constitutional karyotype examination identified an extra ring chromosome in 3% of the cells in one of the affected subjects. The number of rings for each cell varied, and different evolutionary aspects of the ring, such as doubling and interlocking, were present. Furthermore, asynchronous DNA replication of doubling rings was observed. This nonhomogeneous, nonrandom chromosome abnormality found in normal tissue of patients with MEN IIA S could be indicative of sensitivity to structural alteration of some chromosome regions.

摘要

对同一家族的3例IIA型多发性内分泌腺瘤综合征（MEN IIA S）患者进行了研究，该家族两代中有5名患者受影响。染色体组型检查发现其中1例受影响患者3%的细胞中有一条额外的环状染色体。每个细胞中的环状染色体数量各不相同，并且存在环状染色体的不同进化特征，如加倍和互锁。此外，还观察到加倍环状染色体的DNA复制不同步。在MEN IIA S患者正常组织中发现的这种非均一、非随机的染色体异常可能表明对某些染色体区域的结构改变敏感。