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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.
Inhaltsverzeichnis
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.
Zusammenfassung
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.
Zusatztext
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)
Bericht
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)
