Suche ›

Uniparental Disomy (UPD) in Clinical Genetics

A Guide for Clinicians and Patients

Springer Berlin,
64,19 € Lieferbar in 5-7 Tagen
Dieses Produkt ist auch verfügbar als:


This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed.Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.


Titel: Uniparental Disomy (UPD) in Clinical Genetics
Autoren/Herausgeber: Thomas Liehr
Weitere Mitwirkende: UNIQUE
Ausgabe: Softcover reprint of the original 1st ed. 2014

ISBN/EAN: 9783662511145

Seitenzahl: 192
Format: 23,5 x 15,5 cm
Produktform: Taschenbuch/Softcover
Gewicht: 332 g
Sprache: Englisch - Newsletter
Möchten Sie sich für den Newsletter anmelden?

Bitte geben Sie eine gültige E-Mail-Adresse ein.
Lieber nicht