{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T06:37:19Z","timestamp":1789627039012,"version":"build-2803163510"},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,5,5]],"date-time":"2016-05-05T00:00:00Z","timestamp":1462406400000},"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":[[2016,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Chromosome 14q11\u2010q22 deletion syndrome (OMIM 613457) is a rare genomic disorder whose associated phenotype is heterogeneous, depending on the size, and, mostly, on the deleted region. We report the clinical and molecular characterization of a female newborn, whose phenotype was characterized by poor growth, dysmorphic facial features, subclinical hypothyroidism, and mild reduction of CD3CD8 Lymphocytes with increased CD4\/CD8 ratio. By array\u2010CGH, we identified a 4.08 de novo interstitial deletion of the 14q13.2q21.1 region, which includes 16 OMIM genes.Our patient phenotype is compared with other published cases, for a better classification of the 14q11\u2010q22 deletion syndrome. We demonstrated that the 14q13.2q21.1 deletion, which encompasses <jats:italic>NKX2\u20101<\/jats:italic>, but not <jats:italic>FOXG1<\/jats:italic> gene and <jats:italic>HPE8<\/jats:italic> region, identifies a well defined, more benign, microdeletion syndrome. This report confirms that an early identification with accurate characterization of the genomic disorders is of great relevance, enabling proper genetic counseling of the reproductive risk, as well as disease prognosis, and patient management. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37691","type":"journal-article","created":{"date-parts":[[2016,5,5]],"date-time":"2016-05-05T13:21:27Z","timestamp":1462454487000},"page":"1884-1888","source":"Crossref","is-referenced-by-count":11,"title":["14q13 distal microdeletion encompassing <i>NKX2\u20101<\/i> and <i>PAX9<\/i>: Patient report and refinement of the associated phenotype"],"prefix":"10.1002","volume":"170","author":[{"given":"Mattia","family":"Gentile","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Hospital Di Venere \u2010 ASL BARI Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delia","family":"De Mattia","sequence":"additional","affiliation":[{"name":"Neonatology and NICU Department of Biochemical Sciences and Human Oncology University of Bari Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Pansini","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hospital Di Venere \u2010 ASL BARI Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Schettini","sequence":"additional","affiliation":[{"name":"Neonatology and NICU Department of Biochemical Sciences and Human Oncology University of Bari Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia Lucia","family":"Buonadonna","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hospital Di Venere \u2010 ASL BARI Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Capozza","sequence":"additional","affiliation":[{"name":"Neonatology and NICU Department of Biochemical Sciences and Human Oncology University of Bari Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romina","family":"Ficarella","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hospital Di Venere \u2010 ASL BARI Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Laforgia","sequence":"additional","affiliation":[{"name":"Neonatology and NICU Department of Biochemical Sciences and Human Oncology University of Bari Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,5,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35456"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.05.005"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp162"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI18714"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04287.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M009607200"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35215"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/stem.587"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-263X.2008.00915.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e31824cdcdd"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-12"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.123"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20040773"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1418"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380200015"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010049"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000339177"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35334"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100721"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520109"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/71634"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34090"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813518243"},{"key":"e_1_2_6_25_1","doi-asserted-by":"crossref","first-page":"4709","DOI":"10.1242\/dev.099028","article-title":"Pax9 regulates a molecular network involving Bmp4, Fgf10, Shh signaling and the Osr2 transcription factor to control palate morphogenesis","volume":"140","author":"Zhou J","journal-title":"Development"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37691","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37691","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T23:19:25Z","timestamp":1696547965000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37691"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,5]]},"references-count":24,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1002\/ajmg.a.37691"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37691","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,5]]}}}