Monosomy 21q22.11-q22.13 presenting as a Fanconi anemia phenotype
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33801/fullpdf
Reference10 articles.
1. Clinical phenotype of germline RUNX1 haploinsufficiency: From point mutations to large genomic deletions;Béri-Dexheimer;Eur J Hum Genet,2008
2. Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies;Ehling;Am J Med Genet Part A,2004
3. Microdeletion of the Down syndrome critical region at 21q22;Fujita;Am J Med Genet Part A,2010
4. Molecular karyotyping in patients with mental retardation using 100K SNP arrays;Hoyer;J Med Genet,2007
5. Monosomy 21q: Two cases of del(21q) and review of the literature;Huret;Clin Genet,1995
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