Journal article
Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome
Journal of Paediatrics and Child Health, Vol.51(5), pp.555-560
2015
Abstract
Silver–Russell syndrome (SRS) and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are described in isolation. However, their co-occurrence has only been rarely reported. Here, we present a case report of an adolescent with SRS who was diagnosed with MRKH during the evaluation of primary amenorrhoea. Multiplex ligation-dependent probe amplification analysis showed a normal methylation pattern and normal dosage at 11p15.5. A PubMed search for all peer-reviewed publications (original articles and reviews) using the key words Silver–Russell syndrome, Mayer-Rokitansky-Küster-Hauser syndrome, genetics, hypomethylation and reproductive anomalies identified three cases of SRS with MRKH, two of which were associated with significant hypomethylation of the H19 imprinting control region of the 11p15.5 locus. This report highlights the association between SRS and MRKH. The absence of hypomethylation and normal dosage at 11p15.5 suggests these two rare entities share alternative aetiopathogenic mechanisms.
Details
- Title
- Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome
- Authors/Creators
- M.B. Abraham (Author/Creator) - Princess Margaret Hospital for ChildrenK. Carpenter (Author/Creator) - Pathwest Laboratory MedicineG.S. Baynam (Author/Creator) - King Edward Memorial HospitalD.J.G. Mackay (Author/Creator) - University of SouthamptonG. Price (Author/Creator) - Princess Margaret Hospital for ChildrenC.S. Choong (Author/Creator) - Princess Margaret Hospital for Children
- Publication Details
- Journal of Paediatrics and Child Health, Vol.51(5), pp.555-560
- Publisher
- Blackwell Publishing Inc.
- Identifiers
- 991005544383907891
- Copyright
- © 2014 The Authors.
- Murdoch Affiliation
- Institute for Immunology and Infectious Diseases
- Language
- English
- Resource Type
- Journal article
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Source: InCites
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.186 Chromosome Disorders
- 1.186.1533 Genomic Imprinting
- Web Of Science research areas
- Pediatrics
- ESI research areas
- Clinical Medicine