Genetic, genomic and epigenetic alterations in congenital malformations : implications in genetic counseling
Year: 2012
Type: dissertation
Abstract: Mechanisms underlying congenital malformations are largely unknown despite its high incidence, affecting 2-3% of liveborn infants. A broader knowledge about the causes of birth defects would provide valuable information regarding the outcome and prognosis of the anomaly, the development and establishment of diagnostic protocols, the design of therapeutic strategies and genetic counseling to the family. Different approaches have been used in the present thesis regarding technologies and model diseases to elucidate the contribution of genetic and epigenetic alterations in the etiopathogenesis of congenital malformations. Copy number variations, methylation patterns, as well as point mutations have been explored. Moreover, a study to analyze genetic counseling in relation to one of the new molecular techniques used has been performed. Obtained data reveal a relevant role of genetic and epigenetic alterations in congenital malformations, in some cases as a unique cause to explain the disease and in others as part of an oligogenic or multifactorial model.
Authors: Serra Juhé, Clara
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2236691888