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Article

A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype.

European journal of human genetics : EJHG - 1 Mar 2021

Mio Catia, Allegri Lorenzo, Passon Nadia, Bregant Elisa, Demori Eliana, Franzoni Alessandra, Driul Daniela, Riccio Andrea, Damante Giuseppe, Baldan Federica

Abstract excerpt

The Silver-Russell syndrome (SRS) is a rare disorder characterized by heterogeneous clinical features, including growth retardation, typical facial dysmorphisms, and body asymmetry. Genetic alterations causative of SRS mostly affect imprinted genes located on chromosomes 7 or 11. Hypomethylation of the Imprinting Center 1 (IC1) of the chromosome 11p15.5 is the most common cause of SRS, while the Imprinting Center...

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Identifiers

PMID: 33177595
DOI: 10.1038/s41431-020-00753-1
PMCID: PMC7940628

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