Journal
CLINICAL DYSMORPHOLOGY
Volume 19, Issue 3, Pages 128-132Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MCD.0b013e32833a1e3c
Keywords
bipolar disorder; depression; learning disability; 3q29 microdeletion
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Funding
- Manchester Biomedical Research Centre
- MAHSC
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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. Clin Dysmorphol 19:128-132 (C) 2010 Wolters Kluwer Health | Lippincott Williams & Wilkins.
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