Abstract
Somatic mosaicism is something that is observed in everyday lives of cytogeneticists. Chromosome instability is one of the leading causes of large-scale genome variation analyzable since the correct human chromosome number was established in 1956. Somatic mosaicism is also a well-known fact to be present in cases with small supernumerary marker chromosomes (sSMC), i.e. karyotypes of 47,+mar/46. In this study, the data available in the literature were collected concerning the frequency mosaicism in different subgroups of patients with sSMC. Of 3124 cases with sSMC 1626 (52%) present with somatic mosaicism. Some groups like patients with Emanuel-, cat-eye- or i(18p)- syndrome only tend rarely to develop mosaicism, while in Pallister-Killian syndrome every patient is mosaic. In general, acrocentric and nonacrocentric derived sSMCs are differently susceptible to mosaicism; non-acrocentric derived ones are hereby the less stable ones. Even though, in the overwhelming majority of the cases, somatic mosaicism does not have any detectable clinical effects, there are rare cases with altered clinical outcomes due to mosaicism. This is extremely important for prenatal genetic counseling. Overall, as mosaicism is something to be considered in at least every second sSMC case, array-CGH studies cannot be offered as a screening test to reliably detect this kind of chromosomal aberration, as low level mosaic cases and cryptic mosaics are missed by that.
Keywords: Mosaic, small supernumerary marker chromosomes (sSMC), genotype-phenotype correlation
Current Genomics
Title: Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes
Volume: 11 Issue: 6
Author(s): Thomas Liehr, Tatyana Karamysheva, Martina Merkas, Lukrecija Brecevic, Ahmed B. Hamid, Elisabeth Ewers, Kristin Mrasek, Nadezda Kosyakova and Anja Weise
Affiliation:
Keywords: Mosaic, small supernumerary marker chromosomes (sSMC), genotype-phenotype correlation
Abstract: Somatic mosaicism is something that is observed in everyday lives of cytogeneticists. Chromosome instability is one of the leading causes of large-scale genome variation analyzable since the correct human chromosome number was established in 1956. Somatic mosaicism is also a well-known fact to be present in cases with small supernumerary marker chromosomes (sSMC), i.e. karyotypes of 47,+mar/46. In this study, the data available in the literature were collected concerning the frequency mosaicism in different subgroups of patients with sSMC. Of 3124 cases with sSMC 1626 (52%) present with somatic mosaicism. Some groups like patients with Emanuel-, cat-eye- or i(18p)- syndrome only tend rarely to develop mosaicism, while in Pallister-Killian syndrome every patient is mosaic. In general, acrocentric and nonacrocentric derived sSMCs are differently susceptible to mosaicism; non-acrocentric derived ones are hereby the less stable ones. Even though, in the overwhelming majority of the cases, somatic mosaicism does not have any detectable clinical effects, there are rare cases with altered clinical outcomes due to mosaicism. This is extremely important for prenatal genetic counseling. Overall, as mosaicism is something to be considered in at least every second sSMC case, array-CGH studies cannot be offered as a screening test to reliably detect this kind of chromosomal aberration, as low level mosaic cases and cryptic mosaics are missed by that.
Export Options
About this article
Cite this article as:
Liehr Thomas, Karamysheva Tatyana, Merkas Martina, Brecevic Lukrecija, Hamid B. Ahmed, Ewers Elisabeth, Mrasek Kristin, Kosyakova Nadezda and Weise Anja, Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes, Current Genomics 2010; 11 (6) . https://dx.doi.org/10.2174/138920210793176029
DOI https://dx.doi.org/10.2174/138920210793176029 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced AI Techniques in Big Genomic Data Analysis
The thematic issue on "Advanced AI Techniques in Big Genomic Data Analysis" aims to explore the cutting-edge methodologies and applications of artificial intelligence (AI) in the realm of genomic research, where vast amounts of data pose both challenges and opportunities. This issue will cover a broad spectrum of AI-driven strategies, ...read more
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
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
-
The Use of Lectins as Tools to Combat SARS-CoV-2
Current Pharmaceutical Design CFTR Regulation of Aquaporin-Mediated Water Transport: A Target in Male Fertility
Current Drug Targets Molecular Targeting of Lymphatics for Therapy
Current Pharmaceutical Design Recent Developments of Flavonoids with Various Activities
Current Topics in Medicinal Chemistry Molecular Targets and Abdominal Aortic Aneurysms
Recent Patents on Cardiovascular Drug Discovery Novel and Emerging Drugs for Systemic Lupus Erythematosus: Mechanism of Action and Therapeutic Activity
Current Medicinal Chemistry Ascorbic Acid: Its Role in Immune System and Chronic Inflammation Diseases
Mini-Reviews in Medicinal Chemistry Prospective Clinical Applications of CRF Peptide Antagonists
Current Molecular Pharmacology Antiviral Strategies Against Human Coronaviruses
Infectious Disorders - Drug Targets Gender Differences in the Effects of Angiotensin Receptor Blockers on Cardiovascular Disease
Current Pharmaceutical Design Adenoviral Gene Delivery for HIV-1 Vaccination
Current Gene Therapy Diagnosis and Management of Endocrine Hypertension in Children and Adolescents
Current Pharmaceutical Design Oligonucleotide-Directed Mutagenesis and Targeted Gene Correction: A Mechanistic Point of View
Current Molecular Medicine Metabolic Evidence of Diminished Lipid Oxidation in Women With Polycystic Ovary Syndrome
Current Metabolomics Almonds: A Source of Healthy Molecules or a Risk of Aflatoxins Human Exposure?
Current Nutrition & Food Science Wound-Associated Skin Fibrosis: Mechanisms and Treatments Based on Modulating the Inflammatory Response
Endocrine, Metabolic & Immune Disorders - Drug Targets Modulation of Potassium Channels as a Therapeutic Approach
Current Pharmaceutical Design Copper Complexes as Anticancer Agents
Anti-Cancer Agents in Medicinal Chemistry A Bioinformatics Pipeline for Cancer Epigenetics
Current Bioinformatics Evidence-Based Management of Infertile Couples with Repeated Implantation Failure Following IVF
Current Women`s Health Reviews