Uniparental Disomy (UPD) in Clinical Genetics

A Guide for Clinicians and Patients

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Éditeur :

Springer


Paru le : 2014-06-26



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Description

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.
Pages
192 pages
Collection
n.c
Parution
2014-06-26
Marque
Springer
EAN papier
9783642552878
EAN EPUB
9783642552885

Informations sur l'ebook
Nombre pages copiables
1
Nombre pages imprimables
19
Taille du fichier
1454 Ko
Prix
94,94 €

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