18q Deletion syndrome: A neuropsychological case study

Deborah Arguedas, Jennifer Batchelor

Research output: Contribution to journalArticleResearchpeer-review

Abstract

The 18q deletion syndrome (18q-) is a chromosomal disorder involving deletion of the distal segment of chromosome 18. Typifying features include poor cerebral myelination, reduced intellectual functioning and developmental delay. The present study reports the case of an 8-year-old girl diagnosed with 18q-, whose genetic analysis revealed a break at q21.3. Comprehensive neuropsychological testing indicated impaired functioning across most cognitive domains. However, verbal abilities were intact. Given the preservation of verbal skills on a background of relatively global impairment, CB's genetic and cognitive profile has implications for delineation of neuropsychological features associated with specific breakpoints in 18q-.

LanguageEnglish
Pages101-109
Number of pages9
JournalNeurocase
Volume15
Issue number2
DOIs
Publication statusPublished - 2009

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Chromosome Disorders
Chromosomes, Human, Pair 18
Chromosome 18 deletion syndrome
Syndrome
Chromosome
Distal
Testing
Cognitive Profile
Impairment
Verbal Ability

Cite this

Arguedas, Deborah ; Batchelor, Jennifer. / 18q Deletion syndrome : A neuropsychological case study. In: Neurocase. 2009 ; Vol. 15, No. 2. pp. 101-109.
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18q Deletion syndrome : A neuropsychological case study. / Arguedas, Deborah; Batchelor, Jennifer.

In: Neurocase, Vol. 15, No. 2, 2009, p. 101-109.

Research output: Contribution to journalArticleResearchpeer-review

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