期刊
NATURE GENETICS
卷 39, 期 9, 页码 1071-1073出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng2107
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资金
- NICHD NIH HHS [HD047280-02, HD22657-11] Funding Source: Medline
- NIGMS NIH HHS [GM08243] Funding Source: Medline
We have identified a recurrent de novo pericentromeric deletion in 16p11.2 - p12.2 in four individuals with developmental disabilities by microarray- based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2 - p12.2 constitute a previously undescribed syndrome.
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