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.
Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect / P. Nucci, M. P. Manitto, A. Faiella, E. Boncinelli, R. Brancato. - In: OPHTHALMIC GENETICS. - ISSN 1381-6810. - 15:3-4(1994), pp. 129-31-131. [10.3109/13816819409057839]
Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect
P. NucciPrimo
;
1994
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.
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