| Full text | |
| Author(s): |
Simioni, Milena
[1]
;
Vieira, Tarsis Paiva
[1]
;
Sgardioli, Ilaria Cristina
[1]
;
Freitas, Erika Lopes
[2]
;
Rosenberg, Carla
[2]
;
Maurer-Morelli, Claudia Vianna
[1]
;
Lopes-Cendes, Iscia
[1]
;
Fett-Conte, Agnes Cristina
[3]
;
Gil-da-Silva-Lopes, Vera Lucia
[1]
Total Authors: 9
|
| Affiliation: | [1] Univ Estadual Campinas, Dept Med Genet, Fac Med Sci, UNICAMP, BR-13083887 Campinas, SP - Brazil
[2] Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, BR-05508 Sao Paulo - Brazil
[3] Med Sch Sao Jose do Rio Preto, Dept Mol Biol, Sao Jose Do Rio Preto, SP - Brazil
Total Affiliations: 3
|
| Document type: | Journal article |
| Source: | AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 158A, n. 11, p. 2905-2910, NOV 2012. |
| Web of Science Citations: | 9 |
| Abstract | |
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. (AU) | |
| FAPESP's process: | 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes |
| Grantee: | Carla Rosenberg |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 08/10596-0 - Investigation of copy number variation by SNP array in congenital defects with complex inheritance: the model of cleft lip and palate |
| Grantee: | Vera Lúcia Gil da Silva Lopes |
| Support Opportunities: | Regular Research Grants |