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Uniparental Disomy (UPD) in Clinical Genetics A Guide for Clinicians and Patients
Author
Title
Uniparental Disomy (UPD) in Clinical Genetics [electronic resource] : A Guide for Clinicians and Patients / by Thomas Liehr.
ISBN
9783642552885
Publication
Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2014.
Physical Description
1 online resource (XVIII, 192 p.) 36 illus., 26 illus. in color.
Local Notes
Access is available to the Yale community.
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Access restricted by licensing agreement.
Summary
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.
Variant and related titles
Springer ENIN.
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Printed edition:
Printed edition:
Format
Books / Online
Language
English
Added to Catalog
April 24, 2019
Contents
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.
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