{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T21:09:22Z","timestamp":1766869762742,"version":"build-2065373602"},"reference-count":22,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T00:00:00Z","timestamp":1651017600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health","award":["RC 08C923 2019"],"award-info":[{"award-number":["RC 08C923 2019"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay\/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia and dysmorphisms. The correlation of haploinsufficiency of genes outside the CR to specific signs contributes to our knowledge of the effect of the deletion of this gene-poor region of chromosome 12q. This work underlines the still important role of copy number variations in the diagnostic setting of syndromic patients and the positive reflection on management and family genetic counseling.<\/jats:p>","DOI":"10.3390\/genes13050780","type":"journal-article","created":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T13:40:57Z","timestamp":1651066857000},"page":"780","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1780-9837","authenticated-orcid":false,"given":"Maria Paola","family":"Recalcati","sequence":"first","affiliation":[{"name":"Laboratorio di Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, 20095 Cusano Milanino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8108-1521","authenticated-orcid":false,"given":"Ilaria","family":"Catusi","sequence":"additional","affiliation":[{"name":"Laboratorio di Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, 20095 Cusano Milanino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Garzo","sequence":"additional","affiliation":[{"name":"Laboratorio di Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, 20095 Cusano Milanino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0415-4085","authenticated-orcid":false,"given":"Serena","family":"Redaelli","sequence":"additional","affiliation":[{"name":"Dipartimento di Chirurgia e Medicina Traslazionale, Universit\u00e0 di Milano-Bicocca, 20126 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Massimello","sequence":"additional","affiliation":[{"name":"Ospedale San Gerardo, Unit\u00e0 di Genetica Pediatrica, Fondazione Monza e Brianza per il Bambino e la Sua Mamma (MBBM), 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia Beatrice","family":"Maitz","sequence":"additional","affiliation":[{"name":"Ospedale San Gerardo, Unit\u00e0 di Genetica Pediatrica, Fondazione Monza e Brianza per il Bambino e la Sua Mamma (MBBM), 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5299-6036","authenticated-orcid":false,"given":"Mattia","family":"Gentile","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica, PO Di Venere, ASL Bari, 70131 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Ponzi","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica, PO Di Venere, ASL Bari, 70131 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Orsini","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica, PO Di Venere, ASL Bari, 70131 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Zilio","sequence":"additional","affiliation":[{"name":"U.O.S. Laboratorio di Genetica, Azienda ULSS 8 Berica, 36100 Vicenza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annamaria","family":"Montaldi","sequence":"additional","affiliation":[{"name":"U.O.S. Laboratorio di Genetica, Azienda ULSS 8 Berica, 36100 Vicenza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annapaola","family":"Cal\u00f2","sequence":"additional","affiliation":[{"name":"U.O.S. Laboratorio di Genetica, Azienda ULSS 8 Berica, 36100 Vicenza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1428-3609","authenticated-orcid":false,"given":"Anna Paola","family":"Capra","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Biomediche, Odontoiatriche e Delle Immagini Morfologiche e Funzionali, Universit\u00e0 di Messina, 98125 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5213-441X","authenticated-orcid":false,"given":"Silvana","family":"Briuglia","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Biomediche, Odontoiatriche e Delle Immagini Morfologiche e Funzionali, Universit\u00e0 di Messina, 98125 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Angela","family":"La Rosa","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Biomediche, Odontoiatriche e Delle Immagini Morfologiche e Funzionali, Universit\u00e0 di Messina, 98125 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Grillo","sequence":"additional","affiliation":[{"name":"Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1049-0683","authenticated-orcid":false,"given":"Corrado","family":"Romano","sequence":"additional","affiliation":[{"name":"Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy"},{"name":"Medical Genetics, Section of Medical Biochemistry, Department of Biomedical and Biotechnological Sciences, University of Catania, 95124 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastiano","family":"Bianca","sequence":"additional","affiliation":[{"name":"Genetica Medica, ARNAS Garibaldi, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michela","family":"Malacarne","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Giannina Gaslini, UOC Laboratorio di Genetica Umana, 16147 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0825-9159","authenticated-orcid":false,"given":"Martina","family":"Bus\u00e8","sequence":"additional","affiliation":[{"name":"U.O.C. Genetica Medica AOOR Villa Sofia-Cervello, 90146 Palermo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Piccione","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze della Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica d\u2019Eccellenza, \u201cG. D\u2019Alessandro\u201d (PROMISE), Universit\u00e0 Degli Studi di Palermo, 90144 Palermo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1367-7227","authenticated-orcid":false,"given":"Lidia","family":"Larizza","sequence":"additional","affiliation":[{"name":"Laboratorio di Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, 20095 Cusano Milanino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,27]]},"reference":[{"key":"ref_1","first-page":"387","article-title":"12q deletion with oculodentodigital dysplasia-like phenotype","volume":"24","author":"Cano","year":"2016","journal-title":"Clin. Case Rep. 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