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

Liehr, Thomas

 
9783642552878: Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients
Hardcover
ISBN 10: 3642552870 ISBN 13: 9783642552878
Verlag: Springer, 2014

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
2014
Sprache
Englisch
ISBN 10 
3642552870
ISBN 13 
9783642552878
Einband
Gebundene Ausgabe
Anzahl der Seiten
210
Kontakt zum Hersteller
ProductSafety@springernature.com
ProductSafety@springernature.com

Poststr. 9
Darmstadt
64293
Deutschland

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