Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing

Renuka P Dias, Peter Nightingale, Carol Hardy, Gail Kirby, Louise Tee, Susan Price, Fiona Macdonald, Timothy G Barrett, Eamonn R Maher

Research output: Contribution to journalArticlepeer-review

25 Citations (Scopus)

Abstract

About half of all children with a clinical diagnosis of Silver-Russell syndrome (SRS) have a detectable molecular genetic abnormality (maternal uniparental disomy of chromosome upd(7)mat or hypomethylation of H19 differentially methylated region (DMR). The selection of children for molecular genetic testing can be difficult for non-specialists because of the broad phenotypic spectrum of SRS and the tendency of the facial features to mitigate during late childhood. Several clinical scoring systems for SRS have been developed by specialist researchers, but the utility of these for guiding molecular genetic testing in routine clinical practice has not been established.
Original languageEnglish
Pages (from-to)635-9
Number of pages5
JournalJournal of Medical Genetics
Volume50
Issue number9
DOIs
Publication statusPublished - Sep 2013

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