Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder

Jill Clayton-Smith, Carol Giblin, Rupert A. Smith, Carolyn Dunn, Lionel Willatt

    Research output: Contribution to journalArticlepeer-review


    The 3q29 microdeletion syndrome is caused by a recurrent 1.6 Mb deletion of the 3q subtelomeric region. Though sometimes visible on routine microscopy, the deletion is detected more reliably using subtelomeric fluorescence in-situ hybridization (FISH) or molecular karyotyping. The clinical features associated with a 3q29 microdeletion are variable and include developmental delay, autistic features, skeletal abnormalities and dysmorphic facial features with a relatively long face, long nose with a high bridge and broad tip, short philtrum and large ears. Orofacial clefting, cardiac defects, ocular anomalies and genitourinary malformations have been reported occasionally. We report a three generation family where four individuals were confirmed to have a 3q29 microdeletion and compare their clinical features to those of previously reported patients. This family shows that the learning difficulties associated with a 3q29 deletion may be relatively mild. The history of a severe depressive disorder commencing in adulthood in the affected grandmother also supports previous studies linking the 3q29 region to bipolar disorder and links with the observation of Digilio et al. (2009) who also reported a history of depression in an adult woman with a similar deletion. © 2010 Wolters Kluwer Health | Lippincott Williams & Wilkins.
    Original languageEnglish
    Pages (from-to)128-132
    Number of pages4
    JournalClinical dysmorphology
    Issue number3
    Publication statusPublished - Jul 2010


    • 3q29 microdeletion
    • Bipolar disorder
    • Depression
    • Learning disability


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