Verwandte Artikel zu Uniparental Disomy (UPD) in Clinical Genetics: A Guide...

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.

Die Inhaltsangabe kann sich auf eine andere Ausgabe dieses Titels beziehen.

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.

„Über diesen Titel“ kann sich auf eine andere Ausgabe dieses Titels beziehen.

Verlag
Springer
Erscheinungsdatum
2014
Sprache
Englisch
ISBN 10 
3642552870
ISBN 13 
9783642552878
Einband
Gebundene Ausgabe
Anzahl der Seiten
210
Kontakt zum Hersteller
Springer Nature Customer Service Center GmbH
ProductSafety@springernature.com

Europaplatz 3
Heidelberg
69115
Deutschland