Human Gene Set: BALLIF_DEVELOPMENTAL_DISABILITY_P16_P12_DELETION
Standard name
BALLIF_DEVELOPMENTAL_DISABILITY_P16_P12_DELETION
Systematic name
M14238
Brief description
Candidate genes in the pericentromeric microdeletion in 16p11.2-p12.2 associated with developmental disabilities.
Full description or abstract
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.
Collection
C2: Curated CGP: Chemical and Genetic Perturbations
