Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg2014123.pdf
Reference21 articles.
1. Lee, C ., Iafrate, A. J . & Brothman, A. R . Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat. Genet. 39, S48–S54 (2007).
2. Miller, D. T ., Adam, M. P ., Aradhya, S ., Biesecker, L. G ., Brothman, A. R ., Carter, N. P . et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 86, 749–764 (2010).
3. D'Amours, G ., Kibar, Z ., Mathonnet, G ., Fetni, R ., Tihy, F ., Désilets, V et al. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. Clin. Genet. 81, 128–141 (2012).
4. Vissers, L. E ., de Vries, B. B . & Veltman, J. A . Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. J. Med. Genet. 47, 289–297 (2010).
5. Cooper, G. M ., Coe, B. P ., Girirajan, S ., Rosenfeld, J. A ., Vu, T. H ., Baker, C et al. A copy number variation morbidity map of developmental delay. Nat. Genet. 43, 838–846 (2011).
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