Ontology highlight
ABSTRACT:
SUBMITTER: Castera L
PROVIDER: S-EPMC3598316 | biostudies-literature | 2013 Apr
REPOSITORIES: biostudies-literature
Castéra Laurent L Dehainault Catherine C Michaux Dorothée D Lumbroso-Le Rouic Livia L Aerts Isabelle I Doz Francois F Pelet Anna A Couturier Jérôme J Stoppa-Lyonnet Dominique D Gauthier-Villars Marion M Houdayer Claude C
European journal of human genetics : EJHG 20120822 4
Retinoblastoma (Rb) results from inactivation of both alleles of the RB1 gene located in 13q14.2. Whole-germline monoallelic deletions of the RB1 gene (6% of RB1 mutational spectrum) sometimes cause a variable degree of psychomotor delay and several dysmorphic abnormalities. Breakpoints in 12 Rb patients with or without psychomotor delay were mapped to specifically define the role of chromosomal regions adjacent to RB1 in psychomotor delay. A high-resolution CGH array focusing on RB1 and its fla ...[more]