Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review-Reference-Cited by-同舟云学术

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Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

Published:2015-03-14 Issue:1 Volume:16 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

El-Hattab Ayman W,Schaaf Christian P,Fang Ping,Roeder Elizabeth,Kimonis Virginia E,Church Joseph A,Patel Ankita,Cheung Sau Wai

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-015-0157-2/fulltext.html

Reference29 articles.

1. Lisik MZ, Sieron AL. X-linked mental retardation. Med Sci Monit. 2008;14:221–9.

2. Ropers HH, Hamel BC. X-linked mental retardation. Nat Rev Genet. 2005;6:46–57.

3. Froyen G, Van Esch H, Bauters M, Hollanders K, Frints SG, Vermeesch JR, et al. Detection of genomic copy number changes in patients with idiopathic mental retardation by High-Resolution X-Array-CGH: important role for increased gene dosage of XLMR genes. Hum Mut. 2007;28:1042–3.

4. Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet. 2005;77:442–53.

5. Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, et al. MECP2 duplications in six patients with complex sex chromosome rearrangements. Eur J Hum Genet. 2011;19:409–15.

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