Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia-Reference-Cited by-同舟云学术

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Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

Published:2010-10-20 Issue:2 Volume:19 Page:152-156
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Schaaf Christian P,Goin-Kochel Robin P,Nowell Kerri P,Hunter Jill V,Aleck Kirk A,Cox Sarah,Patel Ankita,Bacino Carlos A,Shinawi Marwan

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010168.pdf

Reference12 articles.

1. Weiss LA, Shen Y, Korn JM et al: Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358: 667–675.

2. Kumar RA, KaraMohamed S, Sudi J et al: Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008; 17: 628–638.

3. McCarthy SE, Makarov V, Kirov G et al: Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 2009; 41: 1223–1227.

4. Shinawi M, Liu P, Kang SH et al: Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2009; 47: 332–341.

5. Shimojima K, Inoue T, Fujii Y, Ohno K, Yamamoto T : A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. Eur J Med Genet 2009; 52: 433–435.

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