Of note, Khan et al. (2006) reported a boy with a de novo 16q21-q22 'cytogenetically visible' deletion and hemizygosity of the CBFB gene detected by FISH analysis. He had a cleft soft palate, delayed mineralization of the parietal bones, and mild dysmorphic features including hypertelorism, upslanting palpebral fissures, midface hypoplasia, and micrognathia. Khan et al. (2006) noted the phenotypic similarities to a Cbfb-deficient mouse model (PMID: 12434156) and suggested that CBFB hemizygosity in their patient may have led to the cranial ossification defects (PMID: 17022082).
No literature regarding 'constitutional' duplication of this gene.