{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:47:57Z","timestamp":1760150877035,"version":"build-2065373602"},"reference-count":33,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,1,24]],"date-time":"2022-01-24T00:00:00Z","timestamp":1642982400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>19q13 microdeletion syndrome is a very rare genetic disease characterized by pre- and postnatal growth retardation, intellectual disability, expressive language impairment, ectodermal dysplasia, and slender habitus. Since the description of the first case in 1998, less than 30 cases have been reported worldwide. This article aims to review the knowledge gathered so far on this subject and to present the case of a 10-year-old girl admitted to the National University Center for Children Neurorehabilitation \u201cDr. Nicolae Robanescu\u201d in November of 2018 who presented a slender habitus, growth retardation, facial dysmorphism, skeletal abnormalities, and ectodermal dysplasia. Array-CGH analysis revealed a 1.53 Mb deletion in the 19q13.32-q13.33 region. MLPA for the FKRP gene revealed that the microdeletion was de novo. The patient\u2019s phenotype overlapped with the clinical features of 19q13 microdeletion syndrome. To our knowledge, this is the first case of 19q13 microdeletion syndrome to ever be reported in Romania. We believe our case presents additional features that have never been previously reported in this syndrome, namely, dilatation of the third ventricle and subependymal cyst, left iris coloboma, and tracheomalacia. Moreover, unlike the other 19q13 microdeletion cases that presented with dystonia, our patient also presented dystonia but, interestingly, without having haploinsufficiency of the KMT2B gene.<\/jats:p>","DOI":"10.3390\/genes13020212","type":"journal-article","created":{"date-parts":[[2022,1,25]],"date-time":"2022-01-25T20:38:58Z","timestamp":1643143138000},"page":"212","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4658-2416","authenticated-orcid":false,"given":"Elena-Silvia","family":"Shelby","sequence":"first","affiliation":[{"name":"National University Center for Children\u2019s Neurorehabilitation \u201cDr. Nicolae Rob\u0103nescu\u201d, 44 Dumitru Minc\u0103 Street, District 4, 041408 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Morris","sequence":"additional","affiliation":[{"name":"Department of Genetics, SYNLAB Switzerland, Chemin d\u2019Entre-Bois 21, 1018 Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liliana","family":"P\u0103dure","sequence":"additional","affiliation":[{"name":"National University Center for Children\u2019s Neurorehabilitation \u201cDr. Nicolae Rob\u0103nescu\u201d, 44 Dumitru Minc\u0103 Street, District 4, 041408 Bucharest, Romania"},{"name":"Faculty of Midwifery and Nursing, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 8 Eroilor Sanitari Boulevard, 050474 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrada","family":"Mirea","sequence":"additional","affiliation":[{"name":"National University Center for Children\u2019s Neurorehabilitation \u201cDr. Nicolae Rob\u0103nescu\u201d, 44 Dumitru Minc\u0103 Street, District 4, 041408 Bucharest, Romania"},{"name":"Faculty of Midwifery and Nursing, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 8 Eroilor Sanitari Boulevard, 050474 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Relu","family":"Coco\u0219","sequence":"additional","affiliation":[{"name":"Chair of Medical Genetics, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 37 Dionisie Lupu Street, 020021 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandru","family":"C\u0103r\u0103mizaru","sequence":"additional","affiliation":[{"name":"Human Genomics Laboratory, Craiova University of Medicine and Pharmacy, 2-4 Petru Rare\u0219 Street, 200349 Craiova, Romania"},{"name":"Regional Centre of Medical Genetics Dolj, Clinical Emergency County Hospital, Craiova, 1 Tabaci Street, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"\u0218erban-Sosoi","sequence":"additional","affiliation":[{"name":"Human Genomics Laboratory, Craiova University of Medicine and Pharmacy, 2-4 Petru Rare\u0219 Street, 200349 Craiova, Romania"},{"name":"Regional Centre of Medical Genetics Dolj, Clinical Emergency County Hospital, Craiova, 1 Tabaci Street, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrei","family":"P\u00eervu","sequence":"additional","affiliation":[{"name":"Human Genomics Laboratory, Craiova University of Medicine and Pharmacy, 2-4 Petru Rare\u0219 Street, 200349 Craiova, Romania"},{"name":"Regional Centre of Medical Genetics Dolj, Clinical Emergency County Hospital, Craiova, 1 Tabaci Street, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioana","family":"Strea\u021b\u0103","sequence":"additional","affiliation":[{"name":"Human Genomics Laboratory, Craiova University of Medicine and Pharmacy, 2-4 Petru Rare\u0219 Street, 200349 Craiova, Romania"},{"name":"Regional Centre of Medical Genetics Dolj, Clinical Emergency County Hospital, Craiova, 1 Tabaci Street, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,24]]},"reference":[{"key":"ref_1","unstructured":"Orphanet (2020, March 30). 19q13.11 Microdeletion Syndrome. 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