{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T18:55:42Z","timestamp":1790794542156,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,28]],"date-time":"2020-01-28T00:00:00Z","timestamp":1580169600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2020,1,28]],"date-time":"2020-01-28T00:00:00Z","timestamp":1580169600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1\u2010BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3\u2010BP5). The deletion at BP4\u2010BP5 is the rearrangement most frequently observed compared to other known deletions in BP3\u2010BP5 and BP3\u2010BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay\/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speech disorders. Of note, no overt clinical difference among each group of BP region deletions has been recorded so far.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We report on a four\u2010member family plus an additional unrelated boy affected by a BP3\u2010BP5 deletion that presented with typical clinical signs including speech delay and language impairment. A review of the clinical features associated with the three main groups of BP regions (BP4\u2010BP5, BP3\u2010BP5, and BP3\u2010BP4) deletions is reported.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Array\u2010CGH analysis revealed in the mother (case 1) and in her three children (cases 2, 3, and 4), as well as in the unrelated boy (case 5), the following rearrangement: arr (hg19) 15q13.1\u2010q13.3 (29.213.402\u201332.510.863) x1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This report, along with other recent observations, suggests the hypothesis that the BP region comprised between BP3 and BP5 in chromosome 15q13 is involved in several brain human dysfunctions, including impairment of the language development and, its deletion, may be directly or indirectly responsible for the speech delay and language deficit in the affected individuals.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1109","type":"journal-article","created":{"date-parts":[[2020,1,28]],"date-time":"2020-01-28T17:27:01Z","timestamp":1580232421000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four\u2010member family and an unrelated boy"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5600-9560","authenticated-orcid":false,"given":"Piero","family":"Pavone","sequence":"first","affiliation":[{"name":"Unit of Clinical Pediatrics University Hospital \u201cPoliclinico\u2010Vittorio Emanuele\u201d University of Catania Catania Italy"},{"name":"Unit of Rare Diseases of the Nervous System in Childhood Department of Clinical and Experimental Medicine Section of Pediatrics and Child Neuropsychiatry University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martino","family":"Ruggieri","sequence":"additional","affiliation":[{"name":"Unit of Rare Diseases of the Nervous System in Childhood Department of Clinical and Experimental Medicine Section of Pediatrics and Child Neuropsychiatry University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona D.","family":"Marino","sequence":"additional","affiliation":[{"name":"Units of Pediatrics and Pediatric Emergency University Hospital \u201cPoliclinico\u2010Vittorio Emanuele\u201d Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Corsello","sequence":"additional","affiliation":[{"name":"Units of Pediatrics and Neonatal Intensive Care Department of Health Promotion of Maternal\u2010Infantile Care and of Excellence Internal and Specialist Medicine \u201cG. D'Alessandro\u201d [PROMISE] University of Palermo Palermo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xena","family":"Pappalardo","sequence":"additional","affiliation":[{"name":"National Council of Research Institute for Research and Biomedical Innovation (IRIB) Unit of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Polizzi","sequence":"additional","affiliation":[{"name":"Chair of Pediatrics Department of Educational Sciences University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Parano","sequence":"additional","affiliation":[{"name":"National Council of Research Institute for Research and Biomedical Innovation (IRIB) Unit of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catia","family":"Romano","sequence":"additional","affiliation":[{"name":"Units of Pediatrics and Pediatric Emergency University Hospital \u201cPoliclinico\u2010Vittorio Emanuele\u201d Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Marino","sequence":"additional","affiliation":[{"name":"Units of Pediatrics and Pediatric Emergency University Hospital \u201cPoliclinico\u2010Vittorio Emanuele\u201d Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea Domenico","family":"Pratic\u00f2","sequence":"additional","affiliation":[{"name":"Unit of Rare Diseases of the Nervous System in Childhood Department of Clinical and Experimental Medicine Section of Pediatrics and Child Neuropsychiatry University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Falsaperla","sequence":"additional","affiliation":[{"name":"Units of Pediatrics and Pediatric Emergency University Hospital \u201cPoliclinico\u2010Vittorio Emanuele\u201d Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.013"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1701201114"},{"key":"e_1_2_7_4_1","first-page":"37","article-title":"Scimitar syndrome: About a case and review of the literature","volume":"25","author":"Benjouad I.","year":"2016","journal-title":"Pan African Medical Journal"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.064378"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1995.tb11932.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3092"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp311"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38145"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33692"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaa1975"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/tp.2016.125"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000443343"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.292"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-004-1149-0"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2013.10.001"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1044\/1092-4388(2012\/12-0148)"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1590\/1413-81232018239.04892016"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7601379"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.83"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2007-8-6-r114"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01374.x"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00762-15"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.059907"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.228"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0134997"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.237"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10115"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31000"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.93"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.481"},{"issue":"1","key":"e_1_2_7_32_1","first-page":"1","article-title":"Further patients of pure 15q deletion: Clinical and molecular cytogenetic findings","volume":"27","author":"Solmaz A. 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