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

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.

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

Evolution, Composition and Regulation of Supernumerary B Chromosomes

Evolution, Composition and Regulation of Supernumerary B Chromosomes
  • Author : Andreas Houben,Neil Jones,Cesar Martins,Vladimir Trifonov
  • Publisher : MDPI
  • Release : 25 April 2019
GET THIS BOOKEvolution, Composition and Regulation of Supernumerary B Chromosomes

Supernumerary B chromosomes (Bs) are dispensable genetic elements found in thousands of species of plants and animals, and some fungi. Since their discovery more than a century ago, they have been a source of puzzlement, as they only occur in some members of a population and are absent from others. When they do occur, they are often harmful, and in the absence of “selfishness”, based on mechanisms of mitotic and meiotic drive, there appears to be no obvious reason for

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.

Uniparental Disomy (UPD) in Clinical Genetics

Uniparental Disomy (UPD) in Clinical Genetics
  • Author : Thomas Liehr
  • Publisher : Springer
  • Release : 26 June 2014
GET THIS BOOKUniparental Disomy (UPD) in Clinical Genetics

This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from

Cytogenomics

Cytogenomics
  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Release : 07 June 2021
GET THIS BOOKCytogenomics

Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing,

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 : 30 July 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

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

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

Pharmacoepigenetics

Pharmacoepigenetics
  • Author : Anonim
  • Publisher : Academic Press
  • Release : 04 June 2019
GET THIS BOOKPharmacoepigenetics

Pharmacoepigenetics, Volume Eleven provides a comprehensive volume on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible, view of the field, from basic principles, to applications in disease therapeutics. Leading international researchers from across academia, clinical settings and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the

Modern Soft Tissue Pathology

Modern Soft Tissue Pathology
  • Author : Markku Miettinen
  • Publisher : Cambridge University Press
  • Release : 14 June 2010
GET THIS BOOKModern Soft Tissue Pathology

This book comprehensively covers modern soft tissue pathology and includes both tumors and non-neoplastic entities. Soft tissues make up a large bulk of the human body, and they are susceptible to a wide range of diseases. Many soft-tissue tumors are biologically very aggressive, and the chance of them metastasizing to vital organs is quite high. In recent years, the outlook for soft-tissue cancers has brightened dramatically due to the increased accuracy of the pathologist's tools. All methods of diagnosis are

Musculoskeletal Imaging,The Requisites (Expert Consult- Online and Print),4

Musculoskeletal Imaging,The Requisites (Expert Consult- Online and Print),4
  • Author : B. J. Manaster,David A. May,David G. Disler
  • Publisher : Elsevier Health Sciences
  • Release : 30 July 2021
GET THIS BOOKMusculoskeletal Imaging,The Requisites (Expert Consult- Online and Print),4

Musculoskeletal Imaging: The Requisites, 4th Edition delivers the conceptual, factual, and interpretive information you need for effective clinical practice in musculoskeletal imaging, as well as for certification and recertification review. Master core knowledge the easy and affordable way with clear, concise text enhanced by at-a-glance illustrations, boxes, and tables - all completely rewritten to bring you up to date. Find key information easily with numerous outlines, tables, "pearls," and boxed material for easy reading and reference. Access the fully searchable

Metabolic Diseases

Metabolic Diseases
  • Author : E. Gilbert-Barness,L.A. Barness,P.M. Farrell
  • Publisher : IOS Press
  • Release : 06 January 2017
GET THIS BOOKMetabolic Diseases

The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always