Liehr Uniparental Disomy (UPD) in Clinical Genetics

A Guide for Clinicians and Patients
1. Auflage 2014
ISBN: 978-3-642-55288-5
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 192 Seiten, eBook

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.

Zielgruppe

Professional/practitioner

Autoren/Hrsg.

Liehr, Thomas

Weitere Mitwirkende

UNIQUE

Inhaltsverzeichnis

Introduction.- Formation of UPD.- UPD in diagnostics and genetic counseling.- UPD related syndromes caused by imprinting.- Maternal UPD by chromosome.- Paternal UPD by chromosome.- UPD of unclear parental origin by chromosome.- UPD of multiple chromosomes or chromosomal regions.- Acquired UPD.- Patient organizations in connection with UPD-. Glossary-. References.- Index.