title: Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect.
abstract: 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.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Scientific Institute S. Raffaele Hospital, University of Milan, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Nucci
authors.forename: M P
authors.initials: MP
authors.lastname: Manitto
authors.forename: A
authors.initials: A
authors.lastname: Faiella
authors.forename: E
authors.initials: E
authors.lastname: Boncinelli
authors.forename: R
authors.initials: R
authors.lastname: Brancato
mesh_terms: 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*