Search results for "MESH: Silver-Russell Syndrome"

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New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinti…

2011

International audience; The imprinted 11p15 region is organized in two domains, each of them under the control of its own imprinting control region (ICR1 for the IGF2/H19 domain and ICR2 for the KCNQ1OT1/CDKN1C domain). Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS) and the Silver-Russell (SRS) syndromes. Various 11p15 genetic and epigenetic defects have been demonstrated in BWS and SRS. Among them, isolated DNA methylation defects account for approximately 60% of patients. To investigate whether cryptic copy number variations (CNVs) involving only part of one of the two imprinted domains account for 11p15 isolated…

MaleBeckwith–Wiedemann syndrome[SDV.GEN] Life Sciences [q-bio]/GeneticsMESH: Base SequenceMESH: DNA MethylationCopy-number variationImprinting (psychology)[SDV.BDD]Life Sciences [q-bio]/Development BiologyGenetics (clinical)GeneticsComparative Genomic Hybridization0303 health sciencesKCNQ1OT1MESH: Polymorphism Single Nucleotide030305 genetics & hereditycopy number variation11p15 regionPedigreegenomic imprintingMESH: Silver-Russell SyndromeDNA methylationBeckwith-Wiedemann syndromeFemaleMESH: DNA Copy Number VariationsMESH: Beckwith-Wiedemann SyndromeAdultDNA Copy Number VariationsMESH: PedigreeBiologyPolymorphism Single Nucleotide03 medical and health sciences[SDV.BDD] Life Sciences [q-bio]/Development BiologyGeneticsmedicineHumansEpigenetics030304 developmental biology[SDV.GEN]Life Sciences [q-bio]/GeneticsMESH: HumansBase SequenceChromosomes Human Pair 11MESH: AdultDNA Methylationmedicine.diseaseMESH: MaleMESH: Genomic ImprintingMESH: Comparative Genomic HybridizationUniparental IsodisomySilver-Russell syndromeMESH: Chromosomes Human Pair 11Genomic imprintingMESH: Femalefetal growthfetal growth.

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