Small supernumerary marker chromosomes
Basics
This book is essential information for those affected, their families, and doctors who are confronted with the diagnosis, that they are dealing with a small supernumerary marker chromosome (= sSMC). This book clarifies basic questions on the subject such as: - What are sSMCs and how are they structured? - What genetic parts do they consist of? - What is known about the nature of sSMC formation? - How is an sSMC diagnosed? - What clinical problems do they cause? - How are they categorized? - What are the effects of cell mosaics? - What are familial or de novo sSMCs? - Why does uniparental disomy play a role in some sSMCs? - What research approaches to sSMCs are there? - Which patient organizations / support groups exist? This book is based on research by the author, published since 2005 on the website: https://cs-tl.de/DB/CA/ sSMC/0-Start.html
| Autor: | Liehr, Dr. Thomas |
|---|---|
| ISBN: | 9783758451935 |
| Auflage: | 4 |
| Sprache: | Englisch |
| Seitenzahl: | 108 |
| Produktart: | Kartoniert / Broschiert |
| Verlag: | epubli |
| Veröffentlicht: | 24.12.2023 |
| Untertitel: | Basics |
| Schlagworte: | Clinical Genetics Cytogenetics Genotype-Phenotype-correlation Molecular Genetics diagnostics sSMC-formation small supernumerary marker chromosomes |
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