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

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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Main Authors: Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian
Format: Article
Language:English
Published: Hindawi Limited 2017-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2017/7803136
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spelling doaj-c2c686b160e74fecb81c30866e115d0a2020-11-24T23:03:40ZengHindawi LimitedCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/78031367803136Prenatal 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 SyndactylyMarie-Emmanuelle Naud0Lucie Tosca1Jelena Martinovic2Julien Saada3Corinne Métay4Loïc Drévillon5Virginie Benoit6Sophie Brisset7Gérard Tachdjian8AP-HP, Service d’Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, Clamart, FranceAP-HP, Service d’Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, Clamart, FranceAP-HP, Unité de Fœtopathologie, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, Clamart, FranceAP-HP, Service de Gynécologie Obstétrique, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, Clamart, FranceAP-HP, Service d’Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, Clamart, FranceAP-HP, Service d’Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, Clamart, FranceAP-HP, Service d’Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, Clamart, FranceAP-HP, Service d’Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, Clamart, FranceAP-HP, Service d’Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, Clamart, FranceInterstitial 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.http://dx.doi.org/10.1155/2017/7803136
collection DOAJ
language English
format Article
sources DOAJ
author Marie-Emmanuelle Naud
Lucie Tosca
Jelena Martinovic
Julien Saada
Corinne Métay
Loïc Drévillon
Virginie Benoit
Sophie Brisset
Gérard Tachdjian
spellingShingle Marie-Emmanuelle Naud
Lucie Tosca
Jelena Martinovic
Julien Saada
Corinne Métay
Loïc Drévillon
Virginie Benoit
Sophie Brisset
Gérard Tachdjian
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
Case Reports in Genetics
author_facet Marie-Emmanuelle Naud
Lucie Tosca
Jelena Martinovic
Julien Saada
Corinne Métay
Loïc Drévillon
Virginie Benoit
Sophie Brisset
Gérard Tachdjian
author_sort Marie-Emmanuelle Naud
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_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_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_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
publisher Hindawi Limited
series Case Reports in Genetics
issn 2090-6544
2090-6552
publishDate 2017-01-01
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.
url http://dx.doi.org/10.1155/2017/7803136
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