18q Deletion syndrome: A neuropsychological case study

Deborah Arguedas*, Jennifer Batchelor

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    1 Citation (Scopus)


    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-.

    Original languageEnglish
    Pages (from-to)101-109
    Number of pages9
    Issue number2
    Publication statusPublished - 2009


    Dive into the research topics of '18q Deletion syndrome: A neuropsychological case study'. Together they form a unique fingerprint.

    Cite this