Literature DB >> 15717294

Superior verbal ability and nonverbal learning disability in a child with a novel 17p12p13.1 deletion.

D L Steele1, A K Chisholm, J D R McGhie, R J M Gardner, I E Scheffer, H R Slater, G Dawson.   

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. Copyright 2005 Wiley-Liss, Inc.

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Year:  2005        PMID: 15717294     DOI: 10.1002/ajmg.b.30156

Source DB:  PubMed          Journal:  Am J Med Genet B Neuropsychiatr Genet        ISSN: 1552-4841            Impact factor:   3.568


  1 in total

1.  High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.

Authors:  Howard R Slater; Dione K Bailey; Hua Ren; Manqiu Cao; Katrina Bell; Steven Nasioulas; Robert Henke; K H Andy Choo; Giulia C Kennedy
Journal:  Am J Hum Genet       Date:  2005-09-16       Impact factor: 11.025

  1 in total

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