《国际人类细胞遗传学命名法》与染色体组发生

ISCN and Chromoanagenesis.

作者信息

Doco-Fenzy Martine, Dupont Jean-Michel, Schluth-Bolard Caroline

机构信息

Laboratoire de Génétique, CHU Hôtel-Dieu, Nantes, France.

Service de Médecine Génomique des Maladies de Système et d'Organes, AP-HP Centre-Université de Paris, Hôpital Cochin, Paris, France.

出版信息

Methods Mol Biol. 2025;2968:311-321. doi: 10.1007/978-1-0716-4750-9_18.

DOI:10.1007/978-1-0716-4750-9_18

PMID:40884652

Abstract

The description of chromoanagenesis phenomena is relatively recent in cytogenetics, and the transcription of this type of complex rearrangement using cytogenetic nomenclature is usually complex. An abbreviation dedicated to chromothripsis, the first described of these new types of complex rearrangement, only appeared in the International System for Human Cytogenomic Nomenclature (ISCN) in 2013. This chapter aims to summarize the way(s) of reporting complex chromosome rearrangements grouped under the name of chromoanagenesis (i.e., chromothripsis, chromoanasynthesis, or chromoplexy) in the ISCN nomenclature.

摘要

染色体巨变现象在细胞遗传学中的描述相对较新，并且使用细胞遗传学命名法来转录这种复杂重排通常很复杂。专用于染色体碎裂（这是最早描述的这类新型复杂重排）的缩写直到2013年才出现在《人类细胞基因组命名国际系统》（ISCN）中。本章旨在总结在ISCN命名法中报告归为染色体巨变（即染色体碎裂、染色体融合或染色体错乱）名下的复杂染色体重排的方式。