Article
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.
Journal of medical genetics - 1 Apr 2007
Grati F R, Turolla L, D'Ajello P, Ruggeri A, Miozzo M, Bracalente G, Baldo D, Laurino L, Boldorini R, Frate E, Surico N, Larizza L, Maggi F, Simoni G
Abstract excerpt
BACKGROUND: The phenotypic variability in Beckwith-Wiedemann syndrome (BWS) reflects the genetic heterogeneity of the mechanism which by default leads to the deregulation of genes located at 11p15.5. Genotype-phenotype correlation studies have demonstrated an association between omphalocoele and CDKN1C/p57 mutations or hypermethylation. Paternal uniparental disomy 11 (pUPD11) has been described only in the mosaic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.