In:
Journal of Paediatrics and Child Health, Wiley, Vol. 51, No. 5 ( 2015-05), p. 555-560
Abstract:
Silver–Russell syndrome ( SRS ) and M ayer‐ R okitansky‐ K üster‐ H auser ( 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 P ub M ed search for all peer‐reviewed publications (original articles and reviews) using the key words S ilver– R ussell syndrome, M ayer‐ R okitansky‐ K üster‐ H auser syndrome, genetics, hypomethylation and reproductive anomalies identified three cases of SRS with MRKH , two of which were associated with significant hypomethylation of the H 19 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.
Type of Medium:
Online Resource
ISSN:
1034-4810
,
1440-1754
DOI:
10.1111/jpc.2015.51.issue-5
Language:
English
Publisher:
Wiley
Publication Date:
2015
detail.hit.zdb_id:
2007577-7
