{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:49:48Z","timestamp":1786978188078,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T00:00:00Z","timestamp":1744761600000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Multiple molecular diagnoses (MMD) involve distinct or overlapping phenotypes. They are not so rare in the field of congenital anomalies, given an overall 3.5%\u20138% rate. Mainly, MMD imply distinct genotypes. Exceptionally, genotypes are linked, involving a causal CNV by itself, facing a SNV for a recessive disorder resulting in a dual diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>An unrelated couple was referred at 21\u2009+\u20093\u2009weeks of gestation for talipes equinovarus, cerebellar hypoplasia, clenched fists, elevated hemidiaphragm, and micrognathia. Chromosomal microarray and exome sequencing analyses were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Both identified a pathogenic de novo 22q11.21 deletion (22q11.2del). Fetal autopsy revealed additional features (postaxial polydactyly, facial features, and abnormal lung lobulation), atypical for 22q11.2del syndrome. At the clinician's request, exome sequencing reanalysis identified a paternally inherited\n                      <jats:italic>SCARF2<\/jats:italic>\n                      variant, in trans to the 22q11.2del causing autosomal recessive Van den Ende\u2013Gupta syndrome. This dual diagnosis explains the entire fetus phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This is a novel case of dual diagnosis, first prenatal and second case of this ultrarare association. It reflects the crucial role of precise phenotypic description, combined with the importance of considering dual diagnosis in case of atypical clinical presentation. Finally, prenatal phenotypes remain a challenge given the paucity of available known prenatal data for most rare diseases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Trial Registration<\/jats:title>\n                    <jats:p>\n                      <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/clinicaltrial.gov\">ClinicalTrial.gov<\/jats:ext-link>\n                      ID: NCT05182242\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70096","type":"journal-article","created":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T09:43:41Z","timestamp":1744796621000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende\u2013Gupta and 22q11.2 Deletion Syndromes"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2378-5982","authenticated-orcid":false,"given":"Caroline","family":"Racine","sequence":"first","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, CHU Dijon Bourgogne FHU TRANSLAD, H\u00f4pital d'Enfants  Dijon France"},{"name":"Inserm \u2013 Universit\u00e9 Bourgogne \u2013 UMR1231 GAD  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurore","family":"Garde","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, CHU Dijon Bourgogne FHU TRANSLAD, H\u00f4pital d'Enfants  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"Martz","sequence":"additional","affiliation":[{"name":"Centre Pluridisciplinaire de Diagnostic Pr\u00e9natal CHU Dijon Bourgogne  Dijon 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