Authors:
First book on this topic
The author is a leading expert in the field and his laboratory is collecting all published cases
With numerous patient reports
Includes supplementary material: sn.pub/extras
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Table of contents (11 chapters)
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Front Matter
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Back Matter
About this book
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects.
This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.
Authors and Affiliations
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Institut für Humangenetik, Universitätsklinikum Jena, Jena, Germany
Thomas Liehr
Bibliographic Information
Book Title: Small Supernumerary Marker Chromosomes (sSMC)
Book Subtitle: A Guide for Human Geneticists and Clinicians
Authors: Thomas Liehr
DOI: https://doi.org/10.1007/978-3-642-20766-2
Publisher: Springer Berlin, Heidelberg
eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)
Copyright Information: Springer-Verlag Berlin Heidelberg 2012
Hardcover ISBN: 978-3-642-20765-5Published: 04 November 2011
Softcover ISBN: 978-3-642-43536-2Published: 26 January 2014
eBook ISBN: 978-3-642-20766-2Published: 03 November 2011
Edition Number: 1
Number of Pages: XX, 220
Additional Information: With contributions by UNIQUE (The Rare Chromosome Disorder Support Group)
Topics: Human Genetics, Reproductive Medicine, Laboratory Medicine, Cytogenetics