{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T13:29:56Z","timestamp":1765546196201,"version":"3.37.3"},"reference-count":13,"publisher":"Wiley","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p>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\u2009Mb 17q24.1q24.2 deletion. Among the deleted genes,<jats:italic> KPNA2 <\/jats:italic>and<jats:italic> PSMD12 <\/jats:italic>are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24.1q24.2 deletion.<\/jats:p>","DOI":"10.1155\/2017\/7803136","type":"journal-article","created":{"date-parts":[[2017,3,29]],"date-time":"2017-03-29T17:01:37Z","timestamp":1490806897000},"page":"1-5","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal Diagnosis of a 2.5\u2009Mb De Novo 17q24.1q24.2 Deletion Encompassing<i> KPNA2<\/i> and<i> PSMD12<\/i> Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly"],"prefix":"10.1155","volume":"2017","author":[{"given":"Marie-Emmanuelle","family":"Naud","sequence":"first","affiliation":[{"name":"AP-HP, Service d\u2019Histologie, Embryologie et Cytog\u00e9n\u00e9tique, H\u00f4pitaux Universitaires Paris Sud, Site Antoine B\u00e9cl\u00e8re, Clamart, France"},{"name":"Facult\u00e9 de M\u00e9decine Paris Sud, Universit\u00e9 Paris Sud, Le Kremlin Bic\u00eatre, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2766-8265","authenticated-orcid":true,"given":"Lucie","family":"Tosca","sequence":"additional","affiliation":[{"name":"AP-HP, Service d\u2019Histologie, Embryologie et Cytog\u00e9n\u00e9tique, H\u00f4pitaux Universitaires Paris Sud, Site Antoine B\u00e9cl\u00e8re, Clamart, France"},{"name":"Facult\u00e9 de M\u00e9decine Paris Sud, Universit\u00e9 Paris Sud, Le Kremlin Bic\u00eatre, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jelena","family":"Martinovic","sequence":"additional","affiliation":[{"name":"AP-HP, Unit\u00e9 de F\u0153topathologie, H\u00f4pitaux Universitaires Paris Sud, Site Antoine B\u00e9cl\u00e8re, Clamart, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Saada","sequence":"additional","affiliation":[{"name":"AP-HP, Service de Gyn\u00e9cologie Obst\u00e9trique, H\u00f4pitaux Universitaires Paris Sud, 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