Benign and Pathological Chromosomal Imbalances

Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques

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  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Pages : 220 pages
  • ISBN : 0124046843
  • Rating : 4/5 from 21 reviews
CLICK HERE TO GET THIS BOOKBenign and Pathological Chromosomal Imbalances

Benign and Pathological Chromosomal Imbalances

Benign and Pathological Chromosomal Imbalances
  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Release : 31 August 2013
GET THIS BOOKBenign and Pathological Chromosomal Imbalances

Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of

Small Supernumerary Marker Chromosomes (sSMC)

Small Supernumerary Marker Chromosomes (sSMC)
  • Author : Thomas Liehr
  • Publisher : Springer Science & Business Media
  • Release : 03 November 2011
GET THIS BOOKSmall Supernumerary Marker Chromosomes (sSMC)

Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide

Congenital Anomalies

Congenital Anomalies
  • Author : Stefania Tudorache
  • Publisher : BoD – Books on Demand
  • Release : 02 May 2018
GET THIS BOOKCongenital Anomalies

Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of

Chromosomal Abnormalities

Chromosomal Abnormalities
  • Author : Marcelo Larramendy,Sonia Soloneski
  • Publisher : BoD – Books on Demand
  • Release : 30 August 2017
GET THIS BOOKChromosomal Abnormalities

This edited book, Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability, contains a series of chapters highlighting several aspects related to the generation of chromosomal abnormalities in genetic material. We are extremely grateful to the authors who had contributed with valuable information about the role of genomic instability in pathological disorders as well as in the evolution process.

Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling
  • Author : R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer
  • Publisher : OUP USA
  • Release : 11 November 2011
GET THIS BOOKChromosome Abnormalities and Genetic Counseling

Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

Advances in Understanding Genetic Changes in Cancer

Advances in Understanding Genetic Changes in Cancer
  • Author : Institute of Medicine,Division of Health Sciences Policy
  • Publisher : National Academies Press
  • Release : 01 February 1992
GET THIS BOOKAdvances in Understanding Genetic Changes in Cancer

The past 20 years have seen a rapid increase in our understanding of the biology of cancer. And, advances in understanding the genetics of cancer are beginning to have an impact on the clinical management of malignant disease. Many of the genetic changes that underlie malignant transformation of cells and/or that distinguish malignant clones can be used as markers to diagnose, monitor, or characterize various forms of cancer. The purpose of this volume is to assess the current status of

International Classification of Diseases for Oncology

International Classification of Diseases for Oncology
  • Author : World Health Organization Staff,Andrew Jack,World Health Organization,C. Percy,L. Sobin,S. Shanmugarathan,S. Whelan
  • Publisher : World Health Organization
  • Release : 09 May 2021
GET THIS BOOKInternational Classification of Diseases for Oncology

This edition of ICD-O, the standard tool for coding diagnoses of neoplasms in tumour and cancer registrars and in pathology laboratories, has been developed by a working party convened by the International Agency for Research on Cancer / WHO. ICD-O is a dual classification with coding systems for both topography and morphology. The book has five main sections. The first provides general instructions for using the coding systems and gives rules for their implementation in tumour registries and pathology laboratories. Section

Screening for Colorectal Cancer with Colonoscopy

Screening for Colorectal Cancer with Colonoscopy
  • Author : Rajunor Ettarh
  • Publisher : BoD – Books on Demand
  • Release : 02 December 2015
GET THIS BOOKScreening for Colorectal Cancer with Colonoscopy

Colorectal cancer remains a major health issue for many developed regions around the world. The good news is that early detection has significantly improved overall survival rates and continues to do so. A number of prevention strategies contribute to this positive trend, and today a patient who undergoes a colonoscopy for screening purposes stands a much better chance of being effectively surveyed for prevention of colorectal cancer. Patients can rely increasingly on the improved datasets and technical advances that are

Recent Developments in Myelodysplastic Syndromes

Recent Developments in Myelodysplastic Syndromes
  • Author : Ota Fuchs
  • Publisher : BoD – Books on Demand
  • Release : 20 February 2019
GET THIS BOOKRecent Developments in Myelodysplastic Syndromes

This book deals with the rapid progress in the area of myelodysplastic syndromes (MDS). MDS are a group of age-associated heterogeneous malignant bone marrow stem cell disorders. MDS are characterized by ineffective hematopoiesis, which leads to refractory cytopenias and to clonal instability. Patients with MDS have myeloid dysplasia, intramedullary apoptosis and an increased risk of transformation to acute myeloid leukemia (AML). The use of next generation sequencing has allowed for the identification of molecular mutations in several genes in about 90%

The Causes of Epilepsy

The Causes of Epilepsy
  • Author : Simon D. Shorvon,Frederick Andermann,Renzo Guerrini
  • Publisher : Cambridge University Press
  • Release : 14 April 2011
GET THIS BOOKThe Causes of Epilepsy

Causation is an aspect of epilepsy neglected in the scientific literature and in the conceptualization of epilepsy at a clinical and experimental level. It was to remedy this deficiency that this book was conceived. The book opens with a draft etiological classification that goes some way to filling the nosological void. The book is divided into four etiological categories: idiopathic, symptomatic, cryptogenic, and provoked epilepsies. Each chapter considers topics in a consistent fashion, dealing with the phenomenon of epilepsy in

Molecular Biology and Pathology of Paediatric Cancer

Molecular Biology and Pathology of Paediatric Cancer
  • Author : Catherine J. Cullinane,Jeremy A. Squire
  • Publisher : Oxford Medical Publications
  • Release : 09 May 2021
GET THIS BOOKMolecular Biology and Pathology of Paediatric Cancer

There has been an explosion of knowledge and enormous progress in the fundamental understanding of the biology of cancer in recent years. This has included the realisation that cancer occurs when normal cellular functions are disturbed leading to a malignant phenotype. Much research has focused on understanding the types of disturbances that can occur, the contribution that these abnormalities can make to the development and behavior of particular cancers and more recently, the recognition that these cellular and genetic abnormalities

WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues

WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues
  • Author : E. Campo,N. L. Harris,S. A. Pileri,E. S. Jaffe,H. Stein,J. Thiele
  • Publisher : IARC Who Classification of Tum
  • Release : 18 September 2017
GET THIS BOOKWHO Classification of Tumours of Haematopoietic and Lymphoid Tissues

WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues is a Revised Fourth Edition of the WHO series on histological and genetic typing of human tumours. This authoritative, concise reference provides an international standard for oncologists and pathologists and will serve as an indispensable guide for use in the design of studies monitoring response to therapy and clinical outcome. Diagnostic criteria, pathological features, and associated genetic alterations are described in a strictly disease-oriented manner. Sections on all recognized neoplasms and

Molecular Diagnostics

Molecular Diagnostics
  • Author : Wayne W. Grody,Robert M. Nakamura,Frederick L. Kiechle,Charles Strom
  • Publisher : Academic Press
  • Release : 06 November 2009
GET THIS BOOKMolecular Diagnostics

Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. Molecular Diagnostics provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this