Uniparental Disomy (UPD) in Clinical Genetics
Uniparental Disomy (UPD) in Clinical Genetics
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.
Introduction
Formation of UPDUPD 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.
| ISBN | 978-3-662-51114-5 |
|---|---|
| Artikelnummer | 9783662511145 |
| Medientyp | Buch |
| Auflage | Softcover reprint of the original 1st ed. 2014 |
| Copyrightjahr | 2016 |
| Verlag | Springer, Berlin |
| Umfang | XVIII, 192 Seiten |
| Abbildungen | XVIII, 192 p. 36 illus., 26 illus. in color. |
| Sprache | Englisch |
