Small Supernumerary Marker Chromosomes (sSMC) A Guide for Human Geneticists and Clinicians /

• Main Author: Liehr, Thomas (Author)
• Corporate Author: SpringerLink (Online service)
• Format: Electronic eBook
• Language: English
• Published: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2012.
• Subjects: Medicine.; Human genetics.; Cytogenetics.; Laboratory medicine.; Reproductive medicine.; Biomedicine.; Human Genetics.; Reproductive Medicine.; Laboratory Medicine.

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 s...

Table of Contents:

• Introduction
• Inheritance of sSMC
• Formation of sSMC
• sSMC in genetic diagnostics and counseling
• sSMC known to be correlated with specific syndromes
• Centric sSMC
• Neocentric sSMC by chromosome
• Multiple sSMC
• sSMC additionally to other chromosomal rearrangements
• Complex sSMC
• sSMC and tumor
• Appendix: Patient organizations in connection with sSMC.-Glossary.