Case Reports in Genetics (Jan 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

  • Marie-Emmanuelle Naud,
  • Lucie Tosca,
  • Jelena Martinovic,
  • Julien Saada,
  • Corinne Métay,
  • Loïc Drévillon,
  • Virginie Benoit,
  • Sophie Brisset,
  • Gérard Tachdjian

DOI
https://doi.org/10.1155/2017/7803136
Journal volume & issue
Vol. 2017

Abstract

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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.