Abstract
Human molecular cytogenetics integrates the knowledge on chromosome and genome organization at the molecularand cellular levels in health and disease. Molecular cytogenetic diagnosis is an integral part of current genomicmedicine and is the standard of care in medical genetics and cytogenetics, reproductive medicine, pediatrics, neuropsychiatryand oncology. Regardless numerous advances in this field made throughout the last two decades, researchers andpractitioners who apply molecular cytogenetic techniques may encounter several problems that are extremely difficult tosolve. One of them is undoubtedly the occurrence of somatic genome and chromosome variations, leading to genomic andchromosomal mosaicism, which are related but not limited to technological and evaluative limitations as well as multiplicityof interpretations. More dramatically, current biomedical literature almost lacks descriptions, guidelines or solutions ofthese problems. The present article overviews all these problems and gathers those exclusive data acquired from studies ofgenome and chromosome instability that is relevant to identification and interpretations of this fairly common cause ofsomatic genomic variations and chromosomal mosaicism. Although the way to define pathogenic value of all the intercellularvariations of the human genome is far from being completely understood, it is possible to propose recommendationson molecular cytogenetic diagnosis and management of somatic genome variations in clinical population.
Keywords: Molecular cytogenetics, somatic genome variations, molecular diagnosis, chromosome instability, genomic instability, mosaicism
Current Genomics
Title: Molecular Cytogenetic Diagnosis and Somatic Genome Variations
Volume: 11 Issue: 6
Author(s): S. G. Vorsanova, Y. B. Yurov, I. V. Soloviev and I. Y. Iourov
Affiliation:
Keywords: Molecular cytogenetics, somatic genome variations, molecular diagnosis, chromosome instability, genomic instability, mosaicism
Abstract: Human molecular cytogenetics integrates the knowledge on chromosome and genome organization at the molecularand cellular levels in health and disease. Molecular cytogenetic diagnosis is an integral part of current genomicmedicine and is the standard of care in medical genetics and cytogenetics, reproductive medicine, pediatrics, neuropsychiatryand oncology. Regardless numerous advances in this field made throughout the last two decades, researchers andpractitioners who apply molecular cytogenetic techniques may encounter several problems that are extremely difficult tosolve. One of them is undoubtedly the occurrence of somatic genome and chromosome variations, leading to genomic andchromosomal mosaicism, which are related but not limited to technological and evaluative limitations as well as multiplicityof interpretations. More dramatically, current biomedical literature almost lacks descriptions, guidelines or solutions ofthese problems. The present article overviews all these problems and gathers those exclusive data acquired from studies ofgenome and chromosome instability that is relevant to identification and interpretations of this fairly common cause ofsomatic genomic variations and chromosomal mosaicism. Although the way to define pathogenic value of all the intercellularvariations of the human genome is far from being completely understood, it is possible to propose recommendationson molecular cytogenetic diagnosis and management of somatic genome variations in clinical population.
Export Options
About this article
Cite this article as:
Vorsanova G. S., Yurov B. Y., Soloviev V. I. and Iourov Y. I., Molecular Cytogenetic Diagnosis and Somatic Genome Variations, Current Genomics 2010; 11 (6) . https://dx.doi.org/10.2174/138920210793176010
DOI https://dx.doi.org/10.2174/138920210793176010 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Recombinant Human Polyclonal Antibodies: A New Class of Therapeutic Antibodies Against Viral Infections
Current Pharmaceutical Design Protein Extracts from Somaclonal Mistletoe (Viscum Album L.) Callus with Increased Tumor Cytotoxic Activity in Vitro
Current Bioactive Compounds Long-Term Safety from the Raltegravir Clinical Development Program
Current HIV Research Expanding Targets for a Metabolic Therapy of Cancer: L-Asparaginase
Recent Patents on Anti-Cancer Drug Discovery New Drugs for Epidural Analgesia
Current Drug Targets Direct and Indirect Measurement of Temporal Horn Volume and Temporal Horn Index and its Neuropsychological Correlation in Mild Cognitive Impaired and Alzheimer Diseased Patients
Current Medical Imaging A 30-years Review on Pharmacokinetics of Antibiotics: Is the Right Time for Pharmacogenetics?
Current Drug Metabolism Cancer Gene Therapy Utilizing Interleukin-13 Receptor α2 Chain
Current Gene Therapy Role of Serum and Glucocorticoid-Inducible Kinase (SGK)-1 in Senescence: A Novel Molecular Target Against Age-Related Diseases
Current Medicinal Chemistry Lipoic Acid, a Lead Structure for Multi-Target-Directed Drugs for Neurodegeneration
Mini-Reviews in Medicinal Chemistry Interventional Radiology in Paediatrics
Current Pediatric Reviews Vitamin-D Receptor (VDR) Gene Polymorphisms (TaqI, FokI) in Turkish Patients with Hashimoto’s Thyroiditis: Relationship to the Levels of Vit-D and Cytokines
Endocrine, Metabolic & Immune Disorders - Drug Targets Editorial [Is Drug Safety Dangerous?]
Current Drug Safety Genetic and Epigenetic Drug Targets in Myelodysplastic Syndromes
Current Pharmaceutical Design The Effects of Mesenchymal Stem Cells in Craniofacial Tissue Engineering
Current Stem Cell Research & Therapy Probiotics as Anti-Helicobacter pylori Agent: State of the Art
Anti-Infective Agents The Role of Anticoagulation in Cancer Patients: Facts and Figures
Anti-Cancer Agents in Medicinal Chemistry Alpha-1-Antitrypsin Deficiency and Mechanisms of Liver Disease
Anti-Inflammatory & Anti-Allergy Agents in Medicinal Chemistry Chemistry and Effects of Brainstem Acting Drugs
Central Nervous System Agents in Medicinal Chemistry Advances in the Management of Malignant Hemopathies: The Role of Statins
Recent Patents on DNA & Gene Sequences