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Article

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.

Journal of medical genetics - 1 Dec 2010

Bruce Sara, Hannula-Jouppi Katariina, Puoskari Mari, Fransson Ingegerd, Simola Kalle O J, Lipsanen-Nyman Marita, Kere Juha

Abstract excerpt

BACKGROUND: Silver-Russell syndrome (SRS, OMIM 180860) features fetal and postnatal growth restriction and variable dysmorphisms. Genetic and epigenetic aberrations on chromosomes 7 and 11 are commonly found in SRS. However, a large fraction of SRS cases remain with unknown genetic aetiology. METHODS: 22 patients with a diagnosis of SRS (10 with H19 hypomethylation and 12 of unknown molecular aetiology) and their...

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Identifiers

PMID: 19752157
DOI: 10.1136/jmg.2009.069427

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