Uniparental Disomy (UPD) in Clinical Genetics

A Guide for Clinicians and Patients

AvThomas Liehr

Inbunden, Engelska, 2014

1 528 kr

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Häftad

1 094 kr

Beskrivning

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.

Produktinformation

Utgivningsdatum:2014-07-10
Mått:155 x 235 x 16 mm
Vikt:482 g
Format:Inbunden
Språk:Engelska
Antal sidor:192
Upplaga:2014
Förlag:Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
ISBN:9783642552878

Utforska kategorier

Reproduktionsmedicin inom Medicin
Medicinsk utrustning och medicinska tekniker inom Medicin
Medicinsk genetik inom Medicin

Recensioner i media

From the book reviews: "The book discusses basic concepts avoiding technological language, making book accessible for both lay people and clinical geneticists. ... This is a highly specialized book on a specific molecular/cytogenetic process. ... It should be a great aid for clinical geneticists to make them aware of the phenotype expected in situations where UPD is involved. Patients with UPD and their parents may find the book informative." (Luis F. Escobar, Doody's Book Reviews, September, 2014)

Innehållsförteckning

Introduction.- Formation of UPD.- UPD in diagnostics and genetic counseling.- UPD related syndromes caused by imprinting.- Maternal UPD by chromosome.- Paternal UPD by chromosome.- UPD of unclear parental origin by chromosome.- UPD of multiple chromosomes or chromosomal regions.- Acquired UPD.- Patient organizations in connection with UPD-. Glossary-. References.- Index.