Small Supernumerary Marker Chromosomes (sSMC)

A Guide for Human Geneticists and Clinicians

Authors: Liehr, Thomas

  • 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
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Buy this book

eBook $54.99
price for USA (gross)
  • ISBN 978-3-642-20766-2
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $69.99
price for USA
  • ISBN 978-3-642-20765-5
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $69.99
price for USA
  • ISBN 978-3-642-43536-2
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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.

Table of contents (11 chapters)

  • Introduction

    Liehr, Thomas

    Pages 1-15

  • Inheritance of Small Supernumerary Marker Chromosomes

    Liehr, Thomas

    Pages 17-19

  • Formation of Small Supernumerary Marker Chromosomes

    Liehr, Thomas

    Pages 21-29

  • Small Supernumerary Marker Chromosomes in Genetic Diagnostics and Counseling

    Liehr, Thomas

    Pages 31-46

  • Small Supernumerary Marker Chromosomes Known To Be Correlated with Specific Syndromes

    Liehr, Thomas

    Pages 47-68

Buy this book

eBook $54.99
price for USA (gross)
  • ISBN 978-3-642-20766-2
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $69.99
price for USA
  • ISBN 978-3-642-20765-5
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $69.99
price for USA
  • ISBN 978-3-642-43536-2
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Small Supernumerary Marker Chromosomes (sSMC)
Book Subtitle
A Guide for Human Geneticists and Clinicians
Authors
Copyright
2012
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-20766-2
DOI
10.1007/978-3-642-20766-2
Hardcover ISBN
978-3-642-20765-5
Softcover ISBN
978-3-642-43536-2
Edition Number
1
Number of Pages
XX, 220
Additional Information
With contributions by UNIQUE (The Rare Chromosome Disorder Support Group) 
Topics