Literature DB >> 7542211

Savant characteristics in a child with developmental delay and deletion in the short arm of chromosome 20.

J Rovet1, K Krekewich, K Perlman, R Weksberg, J Holland, A Feigenbaum.   

Abstract

The development outcome of a four-year-old boy with a deletion of the short arm of chromosome 20 is described. Despite a number of early medical problems, including infantile hypoglycemic convulsions secondary to growth hormone deficiency and delayed motor and language development, he has been reading (self-taught) since 2.5 years and currently has computer proficiency, and exceptional memory for maps and spatial locations, an extremely rich and active fantasy life, good diction, and an extensive spoken vocabulary. Neuropsychological evaluation revealed low-average intelligence with normal language, memory and attention functions, and impaired visuomotor and graphomotor ability and motor skills. He showed extremely advanced decoding and reading comprehension skills while mathematics, spelling and general knowledge abilities were average.

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Year:  1995        PMID: 7542211     DOI: 10.1111/j.1469-8749.1995.tb12052.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  2 in total

1.  SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.

Authors:  Binita M Kamath; Brian D Thiel; Xiaowu Gai; Laura K Conlin; Pedro S Munoz; Joseph Glessner; Dinah Clark; Daniel M Warthen; Tamim H Shaikh; Ercan Mihci; David A Piccoli; Struan F A Grant; Hakon Hakonarson; Ian D Krantz; Nancy B Spinner
Journal:  Hum Mutat       Date:  2009-03       Impact factor: 4.878

2.  A Newborn with Panhypopituitarism and Seizures.

Authors:  Trupti Kale; Rachit Patil; Ramesh Pandit
Journal:  Case Rep Genet       Date:  2017-02-01
  2 in total

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