| 书目名称 | Human Ring Chromosomes | | 副标题 | A Practical Guide fo | | 编辑 | Peining Li,Thomas Liehr | | 视频video | | | 概述 | First comprehensive book on Human Ring Chromosomes.Serves as desk-top reference for clinicians, counselors, and diagnostic laboratories.Provides evidence-based references and guidance for current prac | | 图书封面 |  | | 描述 | .This book presents chromosome-wise clinical cases following an evidence-based protocol, in addition to providing the scientific background on the mechanisms of human ring chromosome (RC) formation. Presence of RCs in a genome can lead to several rare genetic diseases. This book, edited by the leading experts Prof. Peining Li and Prof. Thomas Liehr, is the first comprehensive book on this topic..Over the past 60 years, banding cytogenetics, fluorescence in situ hybridization, chromosome microarray analysis, and whole genome sequencing have been used to diagnose cases with a RC. Ring syndrome of sever growth retardation and variable intellectual disability has been considered a common clinical feature for all RCs. Clinical heterogeneity of chromosome-specific deletion and duplication syndromes, gene-related organ and tissue defects, cancer predisposition to different types of tumors, and reproduction failure has been reported in the literature. However, the cases of RCs reportedin the literature account for less than 1% of its real occurrence. Current diagnostic practice lacks laboratory standards for analyzing cellular behavior and genomic imbalances of RCs to evaluate its compound | | 出版日期 | Book 2024 | | 关键词 | Ring chromosomes; dynamic mosaicism; molecular cytogenetics; genomic analysis; ring syndrome; development | | 版次 | 1 | | doi | https://doi.org/10.1007/978-3-031-47530-6 | | isbn_softcover | 978-3-031-47532-0 | | isbn_ebook | 978-3-031-47530-6 | | copyright | The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerl |
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发表于 2025-3-21 18:46:28
