Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and sy...

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Autores principales: Naud, Marie-Emmanuelle, Tosca, Lucie, Martinovic, Jelena, Saada, Julien, Métay, Corinne, Drévillon, Loïc, Benoit, Virginie, Brisset, Sophie, Tachdjian, Gérard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390532/
https://www.ncbi.nlm.nih.gov/pubmed/28465847
http://dx.doi.org/10.1155/2017/7803136
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author Naud, Marie-Emmanuelle
Tosca, Lucie
Martinovic, Jelena
Saada, Julien
Métay, Corinne
Drévillon, Loïc
Benoit, Virginie
Brisset, Sophie
Tachdjian, Gérard
author_facet Naud, Marie-Emmanuelle
Tosca, Lucie
Martinovic, Jelena
Saada, Julien
Métay, Corinne
Drévillon, Loïc
Benoit, Virginie
Brisset, Sophie
Tachdjian, Gérard
author_sort Naud, Marie-Emmanuelle
collection PubMed
description Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24.1q24.2 deletion.
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spelling pubmed-53905322017-05-02 Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly Naud, Marie-Emmanuelle Tosca, Lucie Martinovic, Jelena Saada, Julien Métay, Corinne Drévillon, Loïc Benoit, Virginie Brisset, Sophie Tachdjian, Gérard Case Rep Genet Case Report Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24.1q24.2 deletion. Hindawi 2017 2017-03-29 /pmc/articles/PMC5390532/ /pubmed/28465847 http://dx.doi.org/10.1155/2017/7803136 Text en Copyright © 2017 Marie-Emmanuelle Naud et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Naud, Marie-Emmanuelle
Tosca, Lucie
Martinovic, Jelena
Saada, Julien
Métay, Corinne
Drévillon, Loïc
Benoit, Virginie
Brisset, Sophie
Tachdjian, Gérard
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly
title Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly
title_full Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly
title_fullStr Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly
title_full_unstemmed Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly
title_short Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly
title_sort prenatal diagnosis of a 2.5 mb de novo 17q24.1q24.2 deletion encompassing kpna2 and psmd12 genes in a fetus with craniofacial dysmorphism, equinovarus feet, and syndactyly
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390532/
https://www.ncbi.nlm.nih.gov/pubmed/28465847
http://dx.doi.org/10.1155/2017/7803136
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