{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T23:36:13Z","timestamp":1781566573274,"version":"3.54.5"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,10,5]],"date-time":"2015-10-05T00:00:00Z","timestamp":1444003200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Molecular cytogenetics, particularly array\u2010CGH, opened the way to the \u00ab genotype first approach \u00bb and for the discovery of new micro rearrangement syndromes. This was the case for the 8q24.3 microdeletion syndrome. Here, we describe the phenotype of a fetus with a 8q24.3 deletion. This rare condition has to be considered as a contiguous genes syndrome because its phenotype is generated by the <jats:italic>SCRIB<\/jats:italic> and <jats:italic>PUF60<\/jats:italic> adjacent gene endophenotypes. The fetus presented atrioventricular septal defect and hypoplastic aortic arch, facial dysmorphism, microretrognathia, dysmorphic ears, clinodactyly of the 5th digit on both hands, mild rocker bottom feet and abnormal third sacral vertebra. This fetus is the first case where the endophenotype produced by <jats:italic>SCRIB<\/jats:italic> gene is absent. This case is compared with the previous published cases. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37411","type":"journal-article","created":{"date-parts":[[2015,10,5]],"date-time":"2015-10-05T16:26:42Z","timestamp":1444062402000},"page":"239-242","source":"Crossref","is-referenced-by-count":18,"title":["First fetal case of the 8q24.3 contiguous genes syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"Constance","family":"Wells","sequence":"first","affiliation":[{"name":"Department of Histology\u2010Embryology and Cytogenetics Necker\u2010Enfants Malades Hospital AP\u2010HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Spaggiari","sequence":"additional","affiliation":[{"name":"Department of Histology\u2010Embryology and Cytogenetics Necker\u2010Enfants Malades Hospital AP\u2010HP Paris France"},{"name":"Department of Obstetrics and Maternal\u2010Fetal Medicine Necker\u2010Enfants Malades Hospital AP\u2010HP Paris France"},{"name":"University Paris Descartes Sorbonne Paris\u2010Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Malan","sequence":"additional","affiliation":[{"name":"Department of Histology\u2010Embryology and Cytogenetics Necker\u2010Enfants Malades Hospital AP\u2010HP Paris France"},{"name":"University Paris Descartes Sorbonne Paris\u2010Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien J.","family":"Stirnemann","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Maternal\u2010Fetal Medicine Necker\u2010Enfants Malades Hospital AP\u2010HP Paris France"},{"name":"University Paris Descartes Sorbonne Paris\u2010Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Attie\u2010Bitach","sequence":"additional","affiliation":[{"name":"Department of Histology\u2010Embryology and Cytogenetics Necker\u2010Enfants Malades Hospital AP\u2010HP Paris France"},{"name":"University Paris Descartes Sorbonne Paris\u2010Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Ville","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Maternal\u2010Fetal Medicine Necker\u2010Enfants Malades Hospital AP\u2010HP Paris France"},{"name":"University Paris Descartes Sorbonne Paris\u2010Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Vekemans","sequence":"additional","affiliation":[{"name":"Department of Histology\u2010Embryology and Cytogenetics Necker\u2010Enfants Malades Hospital AP\u2010HP Paris France"},{"name":"University Paris Descartes Sorbonne Paris\u2010Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"Bessieres","sequence":"additional","affiliation":[{"name":"Department of 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,10,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.09.010"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-002-0036-7"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80377-8"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181484b49"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0811691106"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.02.002"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-304835"},{"key":"e_1_2_5_9_1","volume-title":"The malformed fetus and stillbirth: A diagnostic approach","author":"Winter R","year":"1988"}],"container-title":["American Journal of Medical Genetics Part 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