Article
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
PloS one - 27 Aug 2010
Traylor Ryan N, Bruno Damien L, Burgess Trent, Wildin Robert, Spencer Anne, Ganesamoorthy Devika, Amor David J, Hunter Matthew, Caplan Michael, Rosenfeld Jill A, Theisen Aaron, Torchia Beth S, Shaffer Lisa G, Ballif Blake C, Slater Howard R
Abstract excerpt
BACKGROUND: Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features. METHODOLOGY/PRINCIPAL FINDINGS: We characterized...
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