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- Title
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.
- Authors
Naud, Marie-Emmanuelle; Tosca, Lucie; Martinovic, Jelena; Saada, Julien; Métay, Corinne; Drévillon, Loïc; Benoit, Virginie; Brisset, Sophie; Tachdjian, Gérard
- 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.
- Subjects
PRENATAL diagnosis; DELETION mutation; SYNDACTYLY; MUSCLE dysmorphia; CLUBFOOT; CHROMOSOME analysis; GENETICS
- Publication
Case Reports in Genetics, 2017, p1
- ISSN
2090-6544
- Publication type
Case Study
- DOI
10.1155/2017/7803136