Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients - Softcover

Liehr, Thomas

 
9783662511145: Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients
Softcover
ISBN 10: 3662511142 ISBN 13: 9783662511145
Verlag: Springer, 2016

Inhaltsangabe

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.

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Von der hinteren Coverseite

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.

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Verlag
Springer
Erscheinungsdatum
2016
Sprache
Englisch
ISBN 10 
3662511142
ISBN 13 
9783662511145
Einband
Taschenbuch
Anzahl der Seiten
212
Kontakt zum Hersteller
ProductSafety@springernature.com
ProductSafety@springernature.com

Poststr. 9
Darmstadt
64293
Deutschland

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9783642552878: Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients

Vorgestellte Ausgabe

ISBN 10:  3642552870 ISBN 13:  9783642552878
Verlag: Springer, 2014
Hardcover