title: Superior verbal ability and nonverbal learning disability in a child with a novel 17p12p13.1 deletion.
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.
authors.affiliation: Department of Psychology, Monash University, Melbourne, Australia.
authors.forename: D L
authors.initials: DL
authors.lastname: Steele
authors.forename: A K
authors.initials: AK
authors.lastname: Chisholm
authors.forename: J D R
authors.initials: JD
authors.lastname: McGhie
authors.forename: R J M
authors.initials: RJ
authors.lastname: Gardner
authors.forename: I E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: H R
authors.initials: HR
authors.lastname: Slater
authors.forename: G
authors.initials: G
authors.lastname: Dawson
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology / Q000523:psychology; D002874:Chromosome Mapping / Q000379:methods; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007804:Language Development; D007859:Learning Disabilities / Q000473:pathology*; D009483:Neuropsychological Tests; D014706:Verbal Learning