The authors report a child with a phenotype typical of a first branchial arch defect. The patient has a balanced translocation involving chromosome 2. They propose a defect that has occurred during the translocation in a gene mapped to chromosome 2 and belonging to the HOXD family. HOX gene defects can perturb the expression of other genes important for head development.
- Homeotic gene
- Neural crest
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health