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
-
Candida parapsilosis Secreted Lipase as an Important Virulence Factor
Current Protein & Peptide Science The Patents on Glucocorticosteroids and Selected New Therapies for the Management of Asthma in Children
Recent Patents on Inflammation & Allergy Drug Discovery VEGF in Tumor Progression and Targeted Therapy
Current Cancer Drug Targets Analytical Approaches for Assaying Metallodrugs in Biological Samples: Recent Methodological Developments and Future Trends
Current Drug Metabolism Gut Microbiota of Obese, Type 2 Diabetic Individuals is Enriched in Faecalibacterium prausnitzii, Akkermansia muciniphila and Peptostreptococcus anaerobius after Weight Loss
Endocrine, Metabolic & Immune Disorders - Drug Targets Recent Progress in the Chemotherapy of Human Fungal Diseases. Emphasis on 1,3-β-Glucan Synthase and Chitin Synthase Inhibitors
Current Medicinal Chemistry Meet Our Editorial Board Member
Current HIV Research Targeting Molecular Chaperones for the Treatment of Cystic Fibrosis: Is It a Viable Approach?
Current Drug Targets Smart Drug-Delivery Systems for Cancer Nanotherapy
Current Drug Targets Opinion Paper: Selective Targeting of Liver Nodules. Present Situation and New Challenges to Enhance Indocyanine Green Captation from Colorectal Liver Metastases
Current Drug Delivery Diagnostic and Therapeutic Uses of Nanomaterials in the Brain
Current Medicinal Chemistry Pleiotropic Effects of Omega-3 Fatty Acids
Recent Patents on Endocrine, Metabolic & Immune Drug Discovery Emerging Therapeutic Approaches Based on Nanotechnology for the Treatment of Diseases Associated with Telomere Dysfunction
Mini-Reviews in Medicinal Chemistry Regulatory T Cells and Allergic Disease
Inflammation & Allergy - Drug Targets (Discontinued) Laparoscopic Reconstructive Surgery in Pediatric Urology: An Overview of Current Options
Current Pediatric Reviews Cell Life Versus Cell Longevity: The Mysteries Surrounding the NAD+ Precursor Nicotinamide
Current Medicinal Chemistry Silver and Other Metals in the Treatment of Gastrointestinal Diseases
Current Medicinal Chemistry Getting to Know the Cast - Cellular Interactions and Signaling at the Neurovascular Unit
Current Pharmaceutical Design In vivo Evaluation and Alzheimer’s Disease Treatment Outcome of siRNA Loaded Dual Targeting Drug Delivery System
Current Pharmaceutical Biotechnology α7 Nicotinic Acetylcholine Receptors: A Therapeutic Target in the Structure Era
Current Drug Targets