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  • © 2012

Small Supernumerary Marker Chromosomes (sSMC)

A Guide for Human Geneticists and Clinicians

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

Buying options

eBook USD 64.99
Price excludes VAT (USA)
  • ISBN: 978-3-642-20766-2
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
Softcover Book USD 84.99
Price excludes VAT (USA)
Hardcover Book USD 119.99
Price excludes VAT (USA)

This is a preview of subscription content, access via your institution.

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.

Keywords

  • Cat eye syndrome
  • Emanuel syndrome
  • Genetic counseling
  • Human chromosomes
  • Isochromosome
  • Pallister-Killian syndrome
  • Trisomy
  • Turner-syndrome
  • cytogenetics

Authors and Affiliations

  • 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: 978-3-642-20765-5

  • Softcover ISBN: 978-3-642-43536-2

  • eBook ISBN: 978-3-642-20766-2

  • Edition Number: 1

  • Number of Pages: XX, 220

  • Additional Information: With contributions by UNIQUE (The Rare Chromosome Disorder Support Group) 

  • Topics: Medical Genetics, Reproductive Medicine, Biomedical Research, Molecular Genetics

Buying options

eBook USD 64.99
Price excludes VAT (USA)
  • ISBN: 978-3-642-20766-2
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
Softcover Book USD 84.99
Price excludes VAT (USA)
Hardcover Book USD 119.99
Price excludes VAT (USA)