{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T18:18:40Z","timestamp":1763749120829,"version":"3.41.2"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T00:00:00Z","timestamp":1707782400000},"content-version":"vor","delay-in-days":12,"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":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>4q21 microdeletion syndrome is an emergent non\u2010recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions. 4q chromosomal aberrations are variable in type, size, and breakpoint. Genotype\u2013phenotype correlation is a challenging task. The recurrent antenatal feature associated a posteriori with this syndrome is intrauterine growth retardation. There are very few precise antenatal descriptions of this syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report here the first antenatal history of one of the largest deletion of this region.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our case harbored a 16.9\u2009Mb deletion encompassing 135 protein coding genes including 20 OMIM morbid genes involved in neurological and cognitive abilities. Those breakpoints overlap two clusters of described microdeletion syndromes of cytogenetic band 4q13 and 4q21.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>From the end of the second trimester, set of call signs associated with this syndrome can be completed by: excess of amniotic fluid, mild growth retardation, short long bones, bony anomalies of the extremities, and bulging cheeks. So, emphasis should be placed on the examination of the extremities, and the face during the routine targeted prenatal ultrasound.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2397","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T07:28:45Z","timestamp":1707895725000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Antenatal description of large 4q13.2q21.23 deletion and outcomes"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2260-2021","authenticated-orcid":false,"given":"Anna\u2010Ga\u00eblle","family":"Giguet\u2010Valard","sequence":"first","affiliation":[{"name":"Multidisciplinary Department for Antenatal Diagnosis\/Rare Neurological and Neuromuscular Disorders University Hospital Center of Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christelle","family":"Thevenin","sequence":"additional","affiliation":[{"name":"Private Laboratory for Biological Tests \u2013 BIOLAB Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1941-5516","authenticated-orcid":false,"given":"Sophie","family":"Dreux","sequence":"additional","affiliation":[{"name":"Pre\u2010Natal Biochemistry Unit, Biochemistry\u2010Hormonology Laboratory Robert Debr\u00e9 Hospital, DMU Biogem AP\u2010HP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Decatrelle","sequence":"additional","affiliation":[{"name":"Multidisciplinary Department for Antenatal Diagnosis\/Rare Neurological and Neuromuscular Disorders University Hospital Center of Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Laure","family":"Juve","sequence":"additional","affiliation":[{"name":"Multidisciplinary Department for Antenatal Diagnosis\/Rare Neurological and Neuromuscular Disorders University Hospital Center of Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soraya","family":"Yazza","sequence":"additional","affiliation":[{"name":"Multidisciplinary Department for Antenatal Diagnosis\/Rare Neurological and Neuromuscular Disorders University Hospital Center of Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara","family":"Adenet","sequence":"additional","affiliation":[{"name":"Radiology Department University Hospital Center of Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Lesueur","sequence":"additional","affiliation":[{"name":"Genomic Laboratory University Hospital of Necker  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrice","family":"Bouvagnet","sequence":"additional","affiliation":[{"name":"Multidisciplinary Department for Antenatal Diagnosis\/Rare Neurological and Neuromuscular Disorders University Hospital Center of Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mich\u00e8le","family":"Gueneret","sequence":"additional","affiliation":[{"name":"Multidisciplinary Department for Antenatal Diagnosis\/Rare Neurological and Neuromuscular Disorders University Hospital Center of Martinique  Fort\u2010de\u2010France France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,2,13]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_11_2_1","DOI":"10.1002\/ajmg.a.36061"},{"doi-asserted-by":"publisher","key":"e_1_2_11_3_1","DOI":"10.1159\/000263329"},{"doi-asserted-by":"publisher","key":"e_1_2_11_4_1","DOI":"10.1016\/j.ajhg.2021.04.007"},{"doi-asserted-by":"publisher","key":"e_1_2_11_5_1","DOI":"10.1203\/PDR.0b013e318220c08a"},{"doi-asserted-by":"publisher","key":"e_1_2_11_6_1","DOI":"10.1002\/ajmg.a.36821"},{"doi-asserted-by":"publisher","key":"e_1_2_11_7_1","DOI":"10.1002\/ajmg.a.37965"},{"doi-asserted-by":"publisher","key":"e_1_2_11_8_1","DOI":"10.1186\/s13039-015-0118-7"},{"doi-asserted-by":"publisher","key":"e_1_2_11_9_1","DOI":"10.1186\/s12920-020-0711-4"},{"doi-asserted-by":"publisher","key":"e_1_2_11_10_1","DOI":"10.1002\/pd.1970080305"},{"doi-asserted-by":"publisher","key":"e_1_2_11_11_1","DOI":"10.1016\/j.gene.2012.06.087"},{"doi-asserted-by":"publisher","key":"e_1_2_11_12_1","DOI":"10.1002\/ajmg.a.35502"},{"issue":"1","key":"e_1_2_11_13_1","first-page":"29","article-title":"Mild phenotype due to inverse duplication 4p16.3\u2010P15.3 including the Wolf\u2010Hirschhorn critical region","volume":"13","author":"Tschernigg M.","year":"2002","journal-title":"Genetic Counseling"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2397","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T06:55:52Z","timestamp":1717138552000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2397"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1002\/mgg3.2397"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2397","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2024,2]]},"assertion":[{"value":"2023-09-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2397"}}