title: Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26).
abstract: 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 ofnephron 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.
authors.affiliation: Department of Neonatology, Dr Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey.
authors.forename: B
authors.initials: B
authors.lastname: Aydin
authors.forename: D
authors.initials: D
authors.lastname: Dilli
authors.forename: S
authors.initials: S
authors.lastname: Beken
authors.forename: A
authors.initials: A
authors.lastname: Zenciroglu
authors.forename: N
authors.initials: N
authors.lastname: Uzunalic
authors.forename: P
authors.initials: P
authors.lastname: Yuksekkaya
authors.forename: S G
authors.initials: SG
authors.lastname: Akyuz
authors.forename: O
authors.initials: O
authors.lastname: Aydog
authors.forename: N
authors.initials: N
authors.lastname: Okumus
mesh_terms: D003103:Coloboma / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005820:Genetic Testing; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D051762:PAX2 Transcription Factor / Q000235:genetics; D051437:Renal Insufficiency / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D014178:Translocation, Genetic / Q000235:genetics*; D016216:Ultrasonography, Prenatal; D014718:Vesico-Ureteral Reflux / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: D051762:PAX2 Transcription Factor