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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.

Supplementary Material

Supplementary Table I: The description and the physiological role of the genes included in the 17q24.1q24.2 deleted region are presented with the OMIM reference. The impact of their dysregulation is detailed when described in animal models and in human species.

  1. Supplementary Material