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
Joint Authors
Naud, Marie-Emmanuelle
Tosca, Lucie
Martinovic, Jelena
Saada, Julien
Métay, Corinne
Drévillon, Loïc
Benoit, Virginie
Brisset, Sophie
Tachdjian, Gérard
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-03-29
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Naud, Marie-Emmanuelle& Tosca, Lucie& Martinovic, Jelena& Saada, Julien& Métay, Corinne& Drévillon, Loïc…[et al.]. 2017. 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،Vol. 2017, no. 2017, pp.1-5.
https://search.emarefa.net/detail/BIM-1145373
Modern Language Association (MLA)
Naud, Marie-Emmanuelle…[et al.]. 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 No. 2017 (2017), pp.1-5.
https://search.emarefa.net/detail/BIM-1145373
American Medical Association (AMA)
Naud, Marie-Emmanuelle& Tosca, Lucie& Martinovic, Jelena& Saada, Julien& Métay, Corinne& Drévillon, Loïc…[et al.]. 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. 2017. Vol. 2017, no. 2017, pp.1-5.
https://search.emarefa.net/detail/BIM-1145373
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145373