Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Blake Ballif
PROVIDER: E-GEOD-21536 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Traylor Ryan N RN Bruno Damien L DL Burgess Trent T Wildin Robert R Spencer Anne A Ganesamoorthy Devika D Amor David J DJ Hunter Matthew M Hunter Matthew M Caplan Michael M Rosenfeld Jill A JA Theisen Aaron A Torchia Beth S BS Shaffer Lisa G LG Ballif Blake C BC Slater Howard R HR
PloS one 20100827 8
<h4>Background</h4>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.<h4>Methodology/principal findings</h4>We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluati ...[more]