Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
| Authors | Tsang E, Rupps R, McGillivray B, Eydoux P, Marra M, Arbour L, Langlois S, Friedman JM & Zahir FR. |
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| Abstract | [Bonnet et al. (2010); J Med Genet 47: 377-384] recently suggested a 4q21 microdeletion syndrome with several common features, including severe intellectual disability, lack of speech, hypotonia, significant growth restriction, and distinctive facial features. Overlap of the deleted regions of 13 patients, including a patient we previously reported, delineates a critical region, with PRKG2 and RASGEF1B emerging as candidate genes. Here we provide a detailed clinical report and photographic life history of our previously reported patient. Previous case reports of this new syndrome have not described the prognosis or natural history of these patients. © 2012 Wiley Periodicals, Inc. |
| Journal Name and Citation | Am J Med Genet A. 2012 Oct;158A(10):2606-9. |
| Date of Publication | 2012/10/01 |
| Publication Link | http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.35568/abstract |