Uniparental Disomy (UPD) in Clinical Genetics - A Guide for Clinicians and Patients (Paperback, Softcover reprint of the original 1st ed. 2014)

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.

General

Imprint:	Springer-Verlag
Country of origin:	Germany
Release date:	August 2016
First published:	2014
Authors:	Thomas Liehr
Contributors:	Unique
Dimensions:	235 x 155 x 11mm (L x W x T)
Format:	Paperback
Pages:	192
Edition:	Softcover reprint of the original 1st ed. 2014
ISBN-13:	978-3-662-51114-5
Categories:	Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics Books > Medicine > General issues > Medical equipment & techniques > Medical laboratory testing & techniques Books > Medicine > Pre-clinical medicine: basic sciences > Human reproduction, growth & development > Reproductive medicine > General
LSN:	3-662-51114-2
Barcode:	9783662511145

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