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A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay
We report the identification of a recurrent 520-kbp 16p12.1 microdeletion significantly associated with childhood developmental delay. The microdeletion was detected in 20/11,873 cases vs. 2/8,540 controls (p=0.0009, OR=7.2) and replicated in a second series of 22/9,254 cases vs. 6/6,299 controls (p...
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847896/ https://www.ncbi.nlm.nih.gov/pubmed/20154674 http://dx.doi.org/10.1038/ng.534 |