Insertional Translocation Of 15q25-q26 Into 11p13 And Duplication At 8p23.1 Characterized By High Resolution Arrays In A Boy With Congenital Malformations And Aniridia.

Simioni, Milena; Vieira, Társis Paiva; Sgardioli, Ilária Cristina; Freitas, Erika Lopes; Rosenberg, Carla; Maurer-Morelli, Cláudia Vianna; Lopes-Cendes, Iscia; Fett-Conte, Agnes Cristina; Gil-da-Silva-Lopes, Vera Lúcia

Artículos de revistas

Registro en:

American Journal Of Medical Genetics. Part A. v. 158A, n. 11, p. 2905-10, 2012-Nov.

1552-4833

10.1002/ajmg.a.35603

http://www.ncbi.nlm.nih.gov/pubmed/22991255

http://repositorio.unicamp.br/jspui/handle/REPOSIP/200202

22991255

http://repositorioslatinoamericanos.uchile.cl/handle/2250/1300435

Autor

Simioni, Milena

Vieira, Társis Paiva

Sgardioli, Ilária Cristina

Freitas, Erika Lopes

Rosenberg, Carla

Maurer-Morelli, Cláudia Vianna

Lopes-Cendes, Iscia

Fett-Conte, Agnes Cristina

Gil-da-Silva-Lopes, Vera Lúcia

Institución

Universidade Estadual de Campinas (Brasil)

Resumen

We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material on 11p13 was cytogenetically visible and array analyses identified a duplicated segment on 15q25-26 chromosome region; further, array analyses revealed a small deletion (49 kb) at 11p13 region involving the ELP4 gene and a duplication at 8p23.1. Results were confirmed with both molecular and molecular cytogenetics techniques. Possibilities for etiological basis of clinical phenotype are discussed.

158A

2905-10