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Type: Artigo de periódico
Title: 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
Author: 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
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.
Subject: translocation
array comparative genomic hybridization
copy number variation
submucous cleft palate
cardiac defects
Editor: Wiley-Blackwell
Citation: American Journal of Medical Genetics Part A. Wiley-Blackwell, v.158A, n.11, p.2905-2910, 2012
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.35603
Date Issue: 2012
Appears in Collections:FCM - Artigos e Outros Documentos

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