Article
Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect.
Ophthalmic genetics - 1 Jan 2000
Nucci P, Manitto M P, Faiella A, Boncinelli E, Brancato R
Abstract excerpt
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.
Topics
- Branchial Region
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Disorders
- Chromosomes, Human, Pair 10
- Chromosomes, Human, Pair 2
- Eye Abnormalities
- Genes, Homeobox
- Humans
- Infant, Newborn
- Male