Artículos de revistas
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
Registro en:
American Journal of Medical Genetics Part A. Wiley-Blackwell, v.158A, n.11, p.2905-2910, 2012
1552-4825
WOS:000310071700040
10.1002/ajmg.a.35603
Autor
Simioni, Milena
Vieira, Tarsis Paiva
Sgardioli, Ilaria Cristina
Freitas, Erika Lopes
Rosenberg, Carla
Maurer-Morelli, Claudia Vianna
Lopes-Cendes, Iscia
Fett-Conte, Agnes Cristina
Gil-da-Silva-Lopes, Vera Lucia
Institución
Resumen
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) 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. (c) 2012 Wiley Periodicals, Inc. 158A 11 2905 2910 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)