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Synopsis
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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From the Back Cover
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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Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients
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Uniparental Disomy (UPD) in Clinical Genetics
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Springer Berlin Heidelberg, Springer Berlin Heidelberg Aug 2016, 2016
ISBN 10: 3662511142
ISBN 13: 9783662511145
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Taschenbuch. Condition: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -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. 212 pp. Englisch. Seller Inventory # 9783662511145
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Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients
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Uniparental Disomy (UPD) in Clinical Genetics
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Springer Berlin Heidelberg, 2016
ISBN 10: 3662511142
ISBN 13: 9783662511145
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Condition: New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt. First book on this topic The author is a leading expert in the field and his laboratory is collecting all published casesWritten in collaboration with a family support groupWith numerous patient reportsThis book focus o. Seller Inventory # 449137725
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Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients
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Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients
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