Literature DB >> 22991255

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.

Milena Simioni1, Társis Paiva Vieira, Ilária Cristina Sgardioli, Erika Lopes Freitas, Carla Rosenberg, Cláudia Vianna Maurer-Morelli, Iscia Lopes-Cendes, Agnes Cristina Fett-Conte, Vera Lúcia Gil-da-Silva-Lopes.   

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.
Copyright © 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID： 22991255     DOI： 10.1002/ajmg.a.35603

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  8 in total

1.  Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.

Authors:  Milena Simioni; Tânia Kawasaki Araujo; Isabella Lopes Monlleo; Cláudia Vianna Maurer-Morelli; Vera Lúcia Gil-da-Silva-Lopes
Journal:  J Hum Genet       Date:  2014-11-13       Impact factor: 3.172

2.  Implication of non-coding PAX6 mutations in aniridia.

Authors:  Julie Plaisancié; M Tarilonte; P Ramos; C Jeanton-Scaramouche; V Gaston; H Dollfus; D Aguilera; J Kaplan; L Fares-Taie; F Blanco-Kelly; C Villaverde; C Francannet; A Goldenberg; I Arroyo; J M Rozet; C Ayuso; N Chassaing; P Calvas; M Corton
Journal:  Hum Genet       Date:  2018-10-05       Impact factor: 4.132

3.  [Aniridia syndrome: clinical findings, problematic courses and suggestions for optimization of care ("aniridia guide")].

Authors:  B Käsmann-Kellner; B Seitz
Journal:  Ophthalmologe       Date:  2014-12       Impact factor: 1.059

4.  Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

Authors:  Fabíola P Monteiro; Társis P Vieira; Ilária C Sgardioli; Miriam C Molck; Ana Paula Damiano; Josiane Souza; Isabella L Monlleó; Marshall I B Fontes; Agnes C Fett-Conte; Têmis M Félix; Gabriela F Leal; Erlane M Ribeiro; Claudio E M Banzato; Clarissa de R Dantas; Iscia Lopes-Cendes; Vera Lúcia Gil-da-Silva-Lopes
Journal:  Eur J Pediatr       Date:  2013-02-26       Impact factor: 3.183

5.  22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.

Authors:  Ilária C Sgardioli; Társis P Vieira; Milena Simioni; Fabíola P Monteiro; Vera L Gil-da-Silva-Lopes
Journal:  J Pediatr Genet       Date:  2015-03

Review 6.  The genetics of aniridia - simple things become complicated.

Authors:  Anna Wawrocka; Maciej R Krawczynski
Journal:  J Appl Genet       Date:  2018-02-19       Impact factor: 3.240

7.  Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report.

Authors:  Jaime Toral-Lopez; Luz María González Huerta; Olga Messina-Baas; Sergio A Cuevas-Covarrubias
Journal:  World J Clin Cases       Date:  2020-11-06       Impact factor: 1.337

8.  A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus.

Authors:  Tianwei Qian; Chong Chen; Caihua Li; Qiaoyun Gong; Kun Liu; Gao Wang; Isabelle Schrauwen; Xun Xu
Journal:  BMC Ophthalmol       Date:  2021-10-05       Impact factor: 2.209
  8 in total

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