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

MARC

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245 1 0 |a Uniparental Disomy (UPD) in Clinical Genetics  |h [electronic resource] :  |b A Guide for Clinicians and Patients /  |c by Thomas Liehr. 
250 |a 1st ed. 2014. 
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300 |a XVIII, 192 p. 36 illus., 26 illus. in color.  |b online resource. 
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505 0 |a 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. 
520 |a 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. 
650 0 |a Medical genetics. 
650 0 |a Molecular genetics. 
650 0 |a Reproductive health. 
650 0 |a Medicine-Research. 
650 0 |a Biology-Research. 
650 1 4 |a Medical Genetics. 
650 2 4 |a Molecular Genetics. 
650 2 4 |a Reproductive Medicine. 
650 2 4 |a Biomedical Research. 
710 2 |a SpringerLink (Online service) 
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950 |a Biomedical and Life Sciences (SpringerNature-11642) 
950 |a Biomedical and Life Sciences (R0) (SpringerNature-43708) 

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