Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth-Reference-Cited by-同舟云学术

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Published:2009-10-21 Issue:2 Volume:18 Page:227-232
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Malan Valérie,Chevallier Suzanne,Soler Gwendoline,Coubes Christine,Lacombe Didier,Pasquier Laurent,Soulier Jean,Morichon-Delvallez Nicole,Turleau Catherine,Munnich Arnold,Romana Serge,Vekemans Michel,Cormier-Daire Valérie,Colleaux Laurence

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2009162.pdf

Reference28 articles.

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2. Faivre L, Gosset P, Cormier-Daire V et al: Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature. Eur J Hum Genet 2002; 10: 699–706.

3. Tatton-Brown K, Pilz DT, Orstavik KH et al: 15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. Am J Med Genet A 2009; 149A: 147–154.

4. Kurotaki N, Imaizumi K, Harada N et al: Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002; 30: 365–366.

5. Redon R, Baujat G, Sanlaville D et al: Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet 2006; 14: 759–767.

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