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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Detalles Bibliográficos
Publicado en:Case Rep Genet
Main Authors: Naud, Marie-Emmanuelle, Tosca, Lucie, Martinovic, Jelena, Saada, Julien, Métay, Corinne, Drévillon, Loïc, Benoit, Virginie, Brisset, Sophie, Tachdjian, Gérard
Formato: Artigo
Idioma:Inglês
Publicado: Hindawi 2017
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5390532/
https://ncbi.nlm.nih.gov/pubmed/28465847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/7803136
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