Article
5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.
American journal of medical genetics. Part A - 1 Apr 2011
Jaillard Sylvie, Andrieux Joris, Plessis Ghislaine, Krepischi Ana C V, Lucas Josette, David Véronique, Le Brun Marine, Bertola Debora R, David Albert, Belaud-Rotureau Marc-Antoine, Mosser Jean, Lazaro Leila, Treguier Catherine, Rosenberg Carla, Odent Sylvie, Dubourg Christèle
Abstract excerpt
Array-CGH enables the detection of submicroscopic chromosomal deletions and duplications and leads to an accurate delineation of the imbalances, raising the possibility of genotype to phenotype and mapping minimal critical regions associated with particular patterns of clinical features. We report here on four patients sharing common clinical features (psychomotor retardation, coarse facies and ocular anomalies),...
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