{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T17:43:23Z","timestamp":1787939003317,"version":"build-2784847793"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T00:00:00Z","timestamp":1723766400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Chromosome 16p13.11 microdeletion is a very rare copy number variant (CNV), associated with a clinical syndrome characterized by global development delay, neuropsychiatric conditions, facial dysmorphisms, microcephaly, gastroesophageal reflux disease, and congenital heart defects. The 16p13.11 locus is a very unstable genomic region, rich in low-copy number repeats, characterized by many homologous DNA sequences. Usually, the most common CNV of this region include microduplications\/duplications, while the microdeletions are rare, and their clinical features are heterogeneous and poorly described so far.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case report<\/jats:title><jats:p>In this paper, we report the genetic and the clinical features of a patient diagnosed with chromosome 16p13.11 microdeletion, and a short review of the literature on this topic. Our patient was characterized by several facial dysmorphic features, autistic symptoms and language development delay. The genetic evaluation revealed and interstitial deletion of the long arm of the chromosome 16, approximately of 1.5\u00a0Mb.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Interestingly, compared to previous cases, this patient was characterized by autistic symptoms, severe language and motor coordination disorder, without cognitive and cerebral malformations, frequently associated with this microdeletion syndrome.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fgene.2024.1429185","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T04:29:06Z","timestamp":1723782546000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature"],"prefix":"10.3389","volume":"15","author":[{"given":"Roberto","family":"Palumbi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Ponzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Micella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara","family":"Pascali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Bucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mattia","family":"Gentile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Margari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Simone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,8,16]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1016\/j.ajhg.2011.04.003","article-title":"Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]","volume":"88","author":"Alkuraya","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1159\/000517762","article-title":"Clinical implications of chromosome 16 copy number variation","volume":"13","author":"Atli","year":"2022","journal-title":"Mol. Syndromol. maggio"},{"key":"B3","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1016\/j.ejmg.2011.01.008","article-title":"Clinical report: an interstitial deletion of 16p13.11 detected by array CGH in a patient with infantile spasms","volume":"54","author":"Balasubramanian","year":"2011","journal-title":"Eur. J. Med. Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1186\/s12884-022-05267-w","article-title":"16p13.11 microdeletion\/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up","volume":"22","author":"Cai","year":"2022","journal-title":"BMC Pregnancy Childbirth"},{"key":"B5","doi-asserted-by":"publisher","first-page":"14749","DOI":"10.1038\/s41598-022-18999-8","article-title":"The Ntan1 gene is expressed in perineural glia and neurons of adult Drosophila","volume":"12","author":"Casta\u00f1eda-Sampedro","year":"2022","journal-title":"Sci. Rep. 30 agosto"},{"key":"B6","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1093\/brain\/awp262","article-title":"Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies","volume":"133","author":"de Kovel","year":"2010","journal-title":"Brain J. Neurol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"798607","DOI":"10.3389\/fgene.2022.798607","article-title":"Whole exome sequencing in 16p13.11 microdeletion patients reveals new variants through deductive and systems medicine approaches","volume":"13","author":"Granata","year":"2022","journal-title":"Front. Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1136\/jmg.2007.055202","article-title":"Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR\/MCA while the duplication may be a rare benign variant","volume":"46","author":"Hannes","year":"2009","journal-title":"J. Med. Genet. aprile"},{"key":"B9","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1016\/j.ajhg.2010.03.018","article-title":"Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes","volume":"86","author":"Heinzen","year":"2010","journal-title":"Am. J. Hum. Genet. 14 maggio"},{"key":"B10","doi-asserted-by":"publisher","first-page":"e2174","DOI":"10.1002\/mgg3.2174","article-title":"Clinical outcomes of fetuses with chromosome 16 short arm copy number variants","volume":"11","author":"Kang","year":"2023","journal-title":"Mol. Genet. Genomic Med. 4 aprile"},{"key":"B11","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1111\/cge.13557","article-title":"16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome","volume":"96","author":"Kloth","year":"2019","journal-title":"Clin. Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1111\/j.1471-0528.2008.01948.x","article-title":"De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency","volume":"116","author":"Law","year":"2009","journal-title":"BJOG Int. J. Obstet. Gynaecol."},{"key":"B13","volume-title":"Leiter international performance scale-revised (Leiter-R). Volkmar FR, curatore","author":"Lewis","year":"2013"},{"key":"B14","article-title":"Autism diagnostic observation schedule","volume":"284","author":"Lord","year":"2012"},{"key":"B15","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1097\/MCD.0000000000000285","article-title":"16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay","volume":"28","author":"Mald\u017eien\u0117","year":"2019","journal-title":"Clin. Dysmorphol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"988","DOI":"10.1038\/nature03187","article-title":"The sequence and analysis of duplication-rich human chromosome 16","volume":"432","author":"Martin","year":"2004","journal-title":"Nat. dicembre"},{"key":"B17","doi-asserted-by":"publisher","first-page":"e1000962","DOI":"10.1371\/journal.pgen.1000962","article-title":"Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies","volume":"6","author":"Mefford","year":"2010","journal-title":"PLoS Genet. 20 maggio"},{"key":"B18","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1177\/0883073813516382","article-title":"16p13.11 microdeletion in a patient with hemiconvulsion-hemiplegia-epilepsy syndrome: a case report","volume":"30","author":"Miteff","year":"2015","journal-title":"J. Child. Neurol. 1 gennaio"},{"key":"B19","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1038\/ejhg.2010.184","article-title":"Phenotypic manifestations of copy number variation in chromosome 16p13.11","volume":"19","author":"Nagamani","year":"2011","journal-title":"Eur. J. Hum. Genet. EJHG. marzo"},{"key":"B20","doi-asserted-by":"publisher","first-page":"1523","DOI":"10.1002\/ajmg.a.35969","article-title":"Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption","volume":"161","author":"Paciorkowski","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"B21","doi-asserted-by":"publisher","first-page":"2441","DOI":"10.1093\/hmg\/ddn144","article-title":"Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination","volume":"17","author":"Pawlisz","year":"2008","journal-title":"Hum. Mol. Genet. 15 agosto"},{"key":"B22","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1891\/0730-0832.37.5.303","article-title":"Chromosome 16p13.11 microdeletion syndrome in a newborn: a case study","volume":"37","author":"Smith","year":"2018","journal-title":"Neonatal Netw. 1 settembre"},{"key":"B23","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1186\/s12881-017-0501-9","article-title":"Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review","volume":"18","author":"Tan","year":"2017","journal-title":"BMC Med. Genet."},{"key":"B24","doi-asserted-by":"publisher","first-page":"e61365","DOI":"10.1371\/journal.pone.0061365","article-title":"Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders","volume":"8","author":"Tropeano","year":"2013","journal-title":"PloS One"},{"key":"B25","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1002\/humu.20546","article-title":"Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and\/or mental retardation","volume":"28","author":"Ullmann","year":"2007","journal-title":"Hum. Mutat."},{"key":"B26","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1038\/s44319-023-00036-y","article-title":"Nomo1 deficiency causes autism-like behavior in zebrafish","volume":"25","author":"Zhang","year":"2024","journal-title":"EMBO Rep. febbraio"}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2024.1429185\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T04:29:09Z","timestamp":1723782549000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2024.1429185\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,16]]},"references-count":26,"alternative-id":["10.3389\/fgene.2024.1429185"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2024.1429185","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,16]]},"article-number":"1429185"}}