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

doi:10.1136/jmedgenet-2013-101693

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 journal › Article › peer-review

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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 language	English
Pages (from-to)	635-9
Number of pages	5
Journal	Journal of Medical Genetics
Volume	50
Issue number	9
DOIs	https://doi.org/10.1136/jmedgenet-2013-101693
Publication status	Published - Sept 2013

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

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.",

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AU - Dias, Renuka P

AU - Nightingale, Peter

AU - Hardy, Carol

AU - Kirby, Gail

AU - Tee, Louise

AU - Price, Susan

AU - Macdonald, Fiona

AU - Barrett, Timothy G

AU - Maher, Eamonn R

PY - 2013/9

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N2 - 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.

AB - 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.

U2 - 10.1136/jmedgenet-2013-101693

DO - 10.1136/jmedgenet-2013-101693

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EP - 639

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 9

ER -

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

Abstract

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