Objective: Chromosomal abnormalities may result in neurodevelopmental delay. Interstitial deletions on the long arm of chromosome 12 are relatively rare. In 2008, Schluth et al. reported the 16th case of interstitial deletion on the long arm of chromosome 12. They reported a young female presenting with growth retardation, developmental delay, and dysmorphic features. Method: The present case involves an 8-year-old, right handed, Caucasian female with a history of chromosomal abnormality. Oligonucleotide Array Comparative Genomic Hybridization (CGH-array analysis) revealed an 800 kilobase interstitial deletion of the long arm of the chromosome 12; within band 12q15, which deletes 3 to 4 genes. She had a history of developmental delay, growth retardation, hypertonia, short stature, facial dysmorphic features, and optometric deficits. She was referred for neuropsychological testing to ascertain the nature and extent of her developmental issues. Results: Baseline neuropsychological testing yielded a diagnosis of a neurodevelopmental disorder characterized by delayed acquisition of...

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