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

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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριος συγγραφέας: Liehr, Thomas (Συγγραφέας)
Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
Γλώσσα:English
Έκδοση: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2012.
Θέματα:
Διαθέσιμο Online:Full Text via HEAL-Link
Πίνακας περιεχομένων:
  • 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.