Article
Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.
Clinical genetics - 1 Sept 2009
Surace C, Piazzolla S, Sirleto P, Digilio M C, Roberti M C, Lombardo A, D'Elia G, Tomaiuolo A C, Petrocchi S, Capolino R, El Hachem M, Claps Sepulveda D, Sgura A, Angioni A
Abstract excerpt
Ring 17 syndrome is a rare disorder with clinical features influenced by the presence or deletion of the Miller-Dieker critical region (MDCR). Presence of the MDCR is associated with a mild phenotype, including growth delay (GD), mental retardation (MR), seizures, cafè au lait skin (CALS) spots and minor facial dysmorphisms. Previous studies have been mainly focused on this locus providing poor information about...
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