11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

Netchine, Irène; Rossignol, Sylvie; Dufourg, Marie‐Noëlle; Azzi, Salah; Rousseau, Alexandra; Périn, Laurence; Houang, Muriel; Steunou, Virginie; Esteva, Blandine; Thibaud, Nathalie; Raux Demay, Marie-Charles; Danton, Fabienne; Petriczko, Elżbieta; Bertrand, Anne‐Marie; Heinrichs, Claudine; Carel, Jean‐Claude; Loeuille, Guy‐André; Pinto, Graziella; Jacquemont, Marie‐Line; Gicquel, Christine; Cabrol, Sylvie; Le Bouc, Yves

doi:10.1210/jc.2007-0354

Public

11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

Published in The Journal of Clinical Endocrinology & Metabolism • May 16, 2007

Authors:

Irène Netchine

Sylvie Rossignol

Marie‐Noëlle Dufourg

Abstract

CONTEXT: Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and frequent body asymmetry, spares cranial growth. Maternal uniparental disomy for chromosome 7 (mUPD7) is found in 5-10% of cases. We identified loss of methylation (LOM) of...

Subject

RSS

Macrocephaly

Epigenetics

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