Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.
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.
Cardarelli
Laura
L
Laboratorio Analisi CITOTEST, Consorzio GENiMED, Sarmeola di Rubano (PD), Italy.
Sparago
Angela
A
De Crescenzo
Agostina
A
Nalesso
Elisa
E
Zavan
Barbara
B
Cubellis
Maria Vittoria
MV
Selicorni
Angelo
A
Cavicchioli
Paola
P
Pozzan
Giovanni Battista
GB
Petrella
Marilena
M
Riccio
Andrea
A
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
D019382:Human Growth Hormone