Human Ring Chromosomes

Name: Human Ring Chromosomes
Brand: Springer, Berlin
SKU: 9783031475290
Price: 50232 HUF
Availability: InStock

A Practical Guide for Clinicians and Families

Szerző: Peining Li, Thomas Liehr

Nyelv:

Kötés: Kemény kötésű

Kiadó: Springer, Berlin

Elérhetőség: Beszállítói készleten

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This book presents chromosome-wise clinical cases following an evidence-based protocol, in addition...

Információk a könyvről

Szerző

Peining Li, Thomas Liehr

Nyelv

Angol

Kötés

Könyv - Kemény kötésű

Kiadva

2024

oldal

390

EAN

9783031475290

Enbook ID

44313680

Kiadó

Springer, Berlin

Súly

1144

Méretek

178 x 254

Teljes leírás

This book presents chromosome-wise clinical cases following an evidence-based protocol, in addition to providing the scientific background on the mechanisms of RC formation. Presence of human ring chromosomes (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 reported in 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 effects on patients. The under-representation of clinical cases and the lack of comprehensive diagnostic analysis make challenging to establish accurate clinico-cytogenomic correlations. Given recent advances in genomic technology and organized efforts from peer experts, standardized cytogenomic diagnosis and evidence-based clinical management could be envisioned for all patients with RCs.Furthermore, supernumerary small ring chromosomes and the patient's perspective are addressed-the latter by including family stories of RC-carrier relatives. Acquired RCs in various cancers are also discussed, as well as the potential role of RCs in research applications like iPSC cellular modeling and genomic editing.This book is a valuable reference for clinical geneticists, personnel in cytogenetics and molecular genetics laboratories, genetic counselors, and researchers in related fields.

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Human Ring Chromosomes

A Practical Guide for Clinicians and Families

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Azok a vásárlók, akik ezt a könyvet megvásárolták, a következőket is megvásárolták