Literature DB >> 22198201

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

Aurore Brun1, Dorothée Cailley, Jérôme Toutain, Julie Bouron, Benoit Arveiler, Didier Lacombe, Cyril Goizet, Caroline Rooryck.   

Abstract

We report on a boy presenting with features of OAVS (Oculoauriculovertebral spectrum) and carrying a 1.5 Mb microdeletion in 15q24.1q24.2. This recurrent deletion usually leads to a broad clinical spectrum but has never been found associated with features of OAVS such as ear agenesis. This observation is in accordance with OAVS being a genetically heterogeneous disorder, and points out the importance of array-CGH screening in this disorder.
Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Entities:  

Mesh：

Year:  2011        PMID： 22198201     DOI： 10.1016/j.ejmg.2011.11.006

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


  5 in total

Review 1.  Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review.

Authors:  Andressa Barreto Glaeser; Bruna Lixinski Diniz; Desirée Deconte; Andressa Schneiders Santos; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
Journal:  J Pediatr Genet       Date:  2020-05-27

2.  Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

Authors:  Ingeborg Barisic; Ljubica Odak; Maria Loane; Ester Garne; Diana Wellesley; Elisa Calzolari; Helen Dolk; Marie-Claude Addor; Larraitz Arriola; Jorieke Bergman; Sebastiano Bianca; Berenice Doray; Babak Khoshnood; Kari Klungsoyr; Bob McDonnell; Anna Pierini; Judith Rankin; Anke Rissmann; Catherine Rounding; Annette Queisser-Luft; Gioacchino Scarano; David Tucker
Journal:  Eur J Hum Genet       Date:  2014-01-08       Impact factor: 4.246

3.  An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis.

Authors:  Antonio Palazón-Bru; Dolores Ramírez-Prado; Ernesto Cortés; María Soledad Aguilar-Segura; Vicente Francisco Gil-Guillén
Journal:  PeerJ       Date:  2016-02-04       Impact factor: 2.984

Review 4.  Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature.

Authors:  Nils Hansen-Algenstaedt; Melanie Liem; Salah Khalifah; Alf Giese; Angelika Gutenberg
Journal:  J Am Acad Orthop Surg Glob Res Rev       Date:  2019-07-30

Review 5.  Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.

Authors:  Yaobin Liu; Beth Mapow
Journal:  Mol Genet Genomic Med       Date:  2020-05-13       Impact factor: 2.183
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.