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Case Reports in Genetics
Volume 2017 (2017), Article ID 7803136, 5 pages
https://doi.org/10.1155/2017/7803136
Case Report

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

1AP-HP, Service d’Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, Clamart, France
2Faculté de Médecine Paris Sud, Université Paris Sud, Le Kremlin Bicêtre, France
3AP-HP, Unité de Fœtopathologie, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, Clamart, France
4AP-HP, Service de Gynécologie Obstétrique, Hôpitaux Universitaires Paris Sud, Site Antoine Béclère, Clamart, France

Correspondence should be addressed to Lucie Tosca

Received 22 December 2016; Revised 4 March 2017; Accepted 14 March 2017; Published 29 March 2017

Academic Editor: Evica Rajcan-Separovic

Copyright © 2017 Marie-Emmanuelle Naud et al. 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.

Abstract

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.