Small supernumerary marker chromosomes

Basics

Dr. Thomas Liehr (Autor)

Buch | Softcover

108 Seiten

2023 | 4. Auflage
epubli (Verlag)
978-3-7584-5193-5 (ISBN)

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This book is an introduction to the problem of small supernumerary marker chromosomes (sSMCs).

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

siehe https://cs-tl.de/TL.html

Erscheinungsdatum	26.12.2023
Sprache	englisch
Maße	125 x 190 mm
Gewicht	138 g
Themenwelt	Medizin / Pharmazie ► Allgemeines / Lexika
Schlagworte	clinical genetics • cytogenetics • Diagnostics • Diagnostik • Genotype-Phenotype-correlation • molecular genetics • small supernumerary marker chromosomes • sSMC-formation
ISBN-10	3-7584-5193-0 / 3758451930
ISBN-13	978-3-7584-5193-5 / 9783758451935
Zustand	Neuware