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We reported a male patient presenting with neurodevelopmental delay and facial dysmorphisms with a <jats:italic>de novo<\/jats:italic> 19p13.11p13.12 deletion of approximately 1.4 Mb. To date, there are seven cases with deletions overlapping the 19p13.11\u2013p13.12 region described in the literature. A region of 800 kb for branchial arch defects in the proximal region of 19p13.12, and another minimal critical region of 305 kb for hypertrichosis, synophrys, and protruding front teeth have been proposed previously. We suggest that the shortest region of overlap could be refined to an approximately 53 kb region shared within all patients, encompassing part of <jats:italic>BRD4<\/jats:italic> and <jats:italic>AKAP8L<\/jats:italic> genes and the <jats:italic>AKAP8<\/jats:italic> gene. Based on the genotype\u2010phenotype correlation of the present case and cases with overlapping deletions described in the literature, it was possible to recognize a consistent phenotype characterized by microcephaly, ear abnormalities, rounded face, synophrys, arched or upwardly angulated eyebrows, short nose, anteverted nares, prominent cheeks, teeth abnormalities, and developmental delay.<\/jats:p>","DOI":"10.1002\/ajmg.a.38842","type":"journal-article","created":{"date-parts":[[2018,7,29]],"date-time":"2018-07-29T07:25:53Z","timestamp":1532849153000},"page":"1753-1759","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A recognizable phenotype related to 19p13.12 microdeletion"],"prefix":"10.1002","volume":"176","author":[{"given":"Laiara Cristina","family":"de Souza","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medical Sciences State University of Campinas (UNICAMP) Campinas Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Il\u00e1ria Cristina","family":"Sgardioli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medical Sciences State University of Campinas (UNICAMP) Campinas Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7253-7830","authenticated-orcid":false,"given":"Vera L\u00facia","family":"Gil\u2010da\u2010Silva\u2010Lopes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medical Sciences State University of Campinas (UNICAMP) Campinas Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4027-8341","authenticated-orcid":false,"given":"T\u00e1rsis Paiva","family":"Vieira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medical Sciences State University of Campinas (UNICAMP) Campinas Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,7,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.115"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2015.00192"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04287.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12916-017-0778-8"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300765200"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000256367.70365.e0"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12147"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34286"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature02399"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.11.3794-3802.2002"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.06.009"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32691"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2656"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI8047"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33908"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M115.643882"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1455006"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.4835"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23282"},{"key":"e_1_2_8_22_1","doi-asserted-by":"crossref","first-page":"3703","DOI":"10.1242\/jcs.113.21.3703","article-title":"HA95 is a protein of the chromatin and nuclear matrix regulating nuclear envelope dynamics","volume":"113","author":"Martins S. 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