期刊
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
卷 13, 期 4, 页码 326-330出版社
SAGE PUBLICATIONS INC
DOI: 10.2350/09-07-0686-CR.1
关键词
array-CGH; Beckwith-Wiedemann syndrome; DNA methylation; genomic imprinting; Silver-Russell syndrome
资金
- MIUR
- Telethon-Italia [GGP07086]
- Associazione Italiana Ricerca sul Cancro
- Istituto Superiore di Sanita Band Malattie Rare
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.
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