Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00938.x/fullpdf
Reference10 articles.
1. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies;De la Rochebrochard;Am J Med Genet A,2006
2. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients;Ensenauer;Am J Hum Genet,2003
3. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome;Hassed;Clin Genet,2004
4. Two new familial cases with some overlapping features with DiGeorge/Velocardiofacial syndromes;Portnoi;Am J Med Genet A,2005
5. Microduplication and triplication of 22q11.2: a highly variable syndrome;Yobb;Am J Hum Genet,2005
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