A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions.

Gareth Baynam, Jack Goldblatt, S. Townshend

    Research output: Contribution to journalReview article

    23 Citations (Scopus)

    Abstract

    A further case of 3q29 deletion, in a 13-year-old boy, is described and compared with previous reports. Our case shares a number of dysmorphic and neurodevelopmental features with previously reported individuals with 3q29 microdeletion and is the second reported case with deceleration in head growth - which may be a useful diagnostic clue. Novel features, which may expand the phenotype, include nasal voice, six lumbar vertebrae, lower limb contractures and cerebral sigmoid venous thrombosis. Additionally, cases with cytogenetically visible terminal 3q deletions are reviewed.
    Original languageEnglish
    Pages (from-to)145-148
    JournalClinical Dysmorphology
    Volume15
    Issue number3
    DOIs
    Publication statusPublished - 2006

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