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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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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 type: 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 type: Regular Research Grants