GENETIC COUNSELING, cilt.24, ss.201-205, 2013 (SCI İndekslerine Giren Dergi)
Papillorenal syndrome with de nova reciprocal translocation t(2;15) (q31; q26): Renal hypoplasia is a congenital anomaly, the etiology of which is not yet fully known. Genetic studies have shown that certain genes, in utero environmental factors and molecular mechanisms have a role in the identification of nephron formation and kidney size. The coexistence of bilateral renal hypoplasia and optic disc coloboma is observed in papillorenal syndrome, which caused by the mutation of the PAX2 gene. In the case presented in this article, bilateral renal hypoplasia and optic disc coloboma have been detected to coexist. The analysis of the PAX2 gene, which was carried out with an eye to the papillorenal syndrome, did not reveal any mutations. However, de novo t(2;15) (q31; q26) (reciprocal translocation) was detected in chromosome analysis. As far as we know, there are not any publications focusing on the clinical importance of this type of translocation. In cases with renal hypoplasia and optic disc coloboma, the possibility of a de novo translocation between chromosomes 2 and 15 should be considered.