Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/200202
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, 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
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.
Subject: Abnormalities, Multiple
Aniridia
Child, Preschool
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 8
Comparative Genomic Hybridization
Humans
In Situ Hybridization, Fluorescence
Karyotype
Male
Phenotype
Translocation, Genetic
Trisomy
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.35603
Address: http://www.ncbi.nlm.nih.gov/pubmed/22991255
Date Issue: 2012
Appears in Collections:Unicamp - Artigos e Outros Documentos

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