Vous l’avez sûrement remarqué : notre boutique se pare d’un tout nouveau look frais et moderne ! Notre nom, logo et site ont été repensés, mais rassurez-vous : nous restons la même librairie et papeterie que vous connaissez et appréciez.
Curieux·euse de découvrir l’histoire derrière notre nouveau style ?
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.
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