Silver-Russell syndrome and its genetic origins.
Silver-Russell syndrome (SRS) is both clinically and genetically a heterogeneous congenital disorder. Patients are characterised by severe intrauterine and post-natal growth retardation, dysmorphic facial features and, asymmetry. Various chromosome abnormalities have been associated with the disease, involving most often chromosome 7 and 17. In about 7% of sporadic cases, maternal uniparental disomy of chromosome 7 has been detected. Most recent findings suggest that imprinting defects within the 11p15 region also play a role in SRS.
Rossignol
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Laboratoire d'Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, Paris, France. sylvie.rossignol@trs.ap-hop-paris.fr
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D025063:Chromosome Disorders / Q000235:genetics / Q000503:physiopathology; D002880:Chromosomes, Human, Pair 11; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics* / Q000503:physiopathology; D006130:Growth Disorders / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D011247:Pregnancy; D013577:Syndrome; D024182:Uniparental Disomy