title: Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.
abstract: Genomic imprinting is an epigenetic phenomenon resulting in differential expression of maternal and paternal alleles of a subset of genes. In the mouse, mutation of imprinted genes often results in contrasting phenotypes, depending on parental origin. The overgrowth-associated Beckwith-Wiedemann syndrome (BWS) and the growth restriction-associated Silver-Russell syndrome (SRS) have been linked with a variety of epigenetic and genetic defects affecting a cluster of imprinted genes at chromosome 11p15.5. Paternally derived and maternally derived 11p15.5 duplications represent infrequent findings in BWS and SRS, respectively. Here, we report a case in which a 6.5 Mb duplication of 11p15.4-pter resulted in SRS and BWS phenotypes in a child and her mother, respectively. Molecular analyses demonstrated that the duplication involved the maternal chromosome 11p15 in the child and the paternal chromosome 11p15 in the mother. This observation provides a direct demonstration that SRS and BWS represent specular images, both at the clinical and molecular levels.
authors.affiliation: Laboratorio Analisi CITOTEST, Consorzio GENiMED, Sarmeola di Rubano (PD), Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Cardarelli
authors.forename: Angela
authors.initials: A
authors.lastname: Sparago
authors.forename: Agostina
authors.initials: A
authors.lastname: De Crescenzo
authors.forename: Elisa
authors.initials: E
authors.lastname: Nalesso
authors.forename: Barbara
authors.initials: B
authors.lastname: Zavan
authors.forename: Maria Vittoria
authors.initials: MV
authors.lastname: Cubellis
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
authors.forename: Paola
authors.initials: P
authors.lastname: Cavicchioli
authors.forename: Giovanni Battista
authors.initials: GB
authors.lastname: Pozzan
authors.forename: Marilena
authors.initials: M
authors.lastname: Petrella
authors.forename: Andrea
authors.initials: A
authors.lastname: Riccio
mesh_terms: D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019175:DNA Methylation; D005260:Female; D020440:Gene Duplication; D018392:Genomic Imprinting; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D009035:Mothers; D010641:Phenotype; D056730:Silver-Russell Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D024182:Uniparental Disomy
chemical_list: D019382:Human Growth Hormone