Interstitial Deletion of 5q33.3q35.1 in a Girl with Mild Mental Retardation
Overview
Affiliations
Constitutional interstitial deletions of 5q are uncommon. The corresponding phenotype is not well defined. But severe mental retardation seems to be a consistent manifestation. We describe a 4-year-old girl with a de novo deletion of 5q33.3q35.1 presenting only with mild psychomotor delay, minor facial anomalies, and seizures.
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Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation.
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