Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect.
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.
Nucci
P
P
Department of Ophthalmology and Visual Sciences, Scientific Institute S. Raffaele Hospital, University of Milan, Italy.
Manitto
M P
MP
Faiella
A
A
Boncinelli
E
E
Brancato
R
R
D001934:Branchial Region / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10; D002889:Chromosomes, Human, Pair 2; D005124:Eye Abnormalities / Q000235:genetics*; D005801:Genes, Homeobox / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009759:Nystagmus, Pathologic / Q000151:congenital / Q000235:genetics; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*