Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

Beckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60%...

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Publicat a:Eur J Hum Genet
Autors principals: Eggermann, Thomas, Brioude, Frédéric, Russo, Silvia, Lombardi, Maria P, Bliek, Jet, Maher, Eamonn R, Larizza, Lidia, Prawitt, Dirk, Netchine, Irène, Gonzales, Marie, Grønskov, Karen, Tümer, Zeynep, Monk, David, Mannens, Marcel, Chrzanowska, Krystyna, Walasek, Malgorzata K, Begemann, Matthias, Soellner, Lukas, Eggermann, Katja, Tenorio, Jair, Nevado, Julián, Moore, Gudrun E, Mackay, Deborah JG, Temple, Karen, Gillessen-Kaesbach, Gabriele, Ogata, Tsutomu, Weksberg, Rosanna, Algar, Elizabeth, Lapunzina, Pablo
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
Matèries:
Review
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4867462/
https://ncbi.nlm.nih.gov/pubmed/26508573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.224
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