Uniparental Disomy (UPD) in Clinical Genetics A Guide for Clinicians and Patients /

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...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor principal: Liehr, Thomas (Autor)
Autor Corporativo: SpringerLink (Online service)
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2014.
Edición:1st ed. 2014.
Temas:
Medical genetics.
Molecular genetics.
Reproductive health.
Medicine-Research.
Biology-Research.
Medical Genetics.
Molecular Genetics.
Reproductive Medicine.
Biomedical Research.
Acceso en línea:Texto Completo
Tabla de Contenidos:
  • 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.

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