Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/5201494.pdf
Reference9 articles.
1. Edelmann L, Pandita RK, Spiteri E et al: A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999; 8: 1157–1167.
2. Ensenauer RE, Adeyinka A, Flynn HC et al: Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003; 73: 1027–1040.
3. Hassed SJ, Hopcus-Niccum D, Zhang L, Li S, Mulvihill JJ : A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin Genet 2004; 65: 400–404.
4. Sparkes R, Chernos J, Dicke F : Duplication of the 22q11.2 region associated with congenital cardiac disease. Cardiol Young 2005; 15: 229–231.
5. Yobb TM, Somerville MJ, Willatt L et al: Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet 2005; 76: 865–876.
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