Abstract
We report the case of a 10-year-old girl with the karyotype 46,XX,del(17)(p12p13.1) who presented a remarkable incongruence in higher cerebral functioning. Certain language skills were very superior, with reading and spelling at a 17-19 year-old level of proficiency. Nonverbal skills, however, were mostly below average, executive functioning and socialization were impaired, and a diagnosis of "nonverbal learning disability" is applied. We speculate that the genes deleted include one or some which code for certain specific categories of neural substrate that subserve aspects of visual processing and higher functioning, but that no "language loci" have been deleted. The particular neuropsychological profile that we describe may assist diagnosis of this chromosomal deletion. © 2005 Wiley-Liss, Inc.
Author supplied keywords
Cite
CITATION STYLE
Steele, D. L., Chisholm, A. K., McGhie, J. D. R., Gardner, R. J. M., Scheffer, I. E., Slater, H. R., & Dawson, G. (2005). Superior verbal ability and nonverbal learning disability in a child with a novel 17p12p13.1 deletion. American Journal of Medical Genetics - Neuropsychiatric Genetics, 134 B(1), 104–109. https://doi.org/10.1002/ajmg.b.30156
Register to see more suggestions
Mendeley helps you to discover research relevant for your work.