{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:42:46Z","timestamp":1760150566127,"version":"build-2065373602"},"reference-count":26,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2023,12,10]],"date-time":"2023-12-10T00:00:00Z","timestamp":1702166400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry for University and Research (MUR)","award":["2020J84FAM"],"award-info":[{"award-number":["2020J84FAM"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Large-scale genomic structural variations can have significant clinical implications, depending on the specific altered genomic region. Briefly, 2q37 microdeletion syndrome is a prevalent subtelomeric deletion disorder characterized by variable-sized deletions. Affected patients exhibit a wide range of clinical manifestations, including short stature, facial dysmorphism, and features of autism spectrum disorder, among others. Conversely, isolated duplications of proximal chromosome 2q are rare and lack a distinct phenotype. In this report, we provide an extensive molecular analysis of a 15-day-old newborn referred for syndromic features. Our analysis reveals an 8.5 Mb microdeletion at 2q37.1, which extends to the telomere, in conjunction with an 8.6 Mb interstitial microduplication at 2q34q36.1. Our findings underscore the prominence of 2q37 terminal deletions as commonly reported genomic anomalies. We compare our patient\u2019s phenotype with previously reported cases in the literature to contribute to a more refined classification of 2q37 microdeletion syndrome and assess the potential impact of 2q34q36.1 microduplication. We also investigate multiple hypotheses to clarify the genetic mechanisms responsible for the observed genomic rearrangement.<\/jats:p>","DOI":"10.3390\/genes14122194","type":"journal-article","created":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T06:56:00Z","timestamp":1702277760000},"page":"2194","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features"],"prefix":"10.3390","volume":"14","author":[{"given":"Francesco Nicola","family":"Riviello","sequence":"first","affiliation":[{"name":"U.O.C. Laboratorio di Genetica Medica, PO Di Venere\u2014ASL Bari, 70012 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-1677-8333","authenticated-orcid":false,"given":"Alessia","family":"Daponte","sequence":"additional","affiliation":[{"name":"Dipartimento di Bioscienze, Biotecnologie e Ambiente, Universit\u00e0 degli Studi di Bari \u201cAldo Moro\u201d, 70125 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Ponzi","sequence":"additional","affiliation":[{"name":"U.O.C. Laboratorio di Genetica Medica, PO Di Venere\u2014ASL Bari, 70012 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romina","family":"Ficarella","sequence":"additional","affiliation":[{"name":"U.O.C. Laboratorio di Genetica Medica, PO Di Venere\u2014ASL Bari, 70012 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Orsini","sequence":"additional","affiliation":[{"name":"U.O.C. Laboratorio di Genetica Medica, PO Di Venere\u2014ASL Bari, 70012 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Bucci","sequence":"additional","affiliation":[{"name":"U.O.C. Laboratorio di Genetica Medica, PO Di Venere\u2014ASL Bari, 70012 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7762-8777","authenticated-orcid":false,"given":"Mario","family":"Ventura","sequence":"additional","affiliation":[{"name":"Dipartimento di Bioscienze, Biotecnologie e Ambiente, Universit\u00e0 degli Studi di Bari \u201cAldo Moro\u201d, 70125 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5833-6186","authenticated-orcid":false,"given":"Francesca","family":"Antonacci","sequence":"additional","affiliation":[{"name":"Dipartimento di Bioscienze, Biotecnologie e Ambiente, Universit\u00e0 degli Studi di Bari \u201cAldo Moro\u201d, 70125 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2166-723X","authenticated-orcid":false,"given":"Claudia Rita","family":"Catacchio","sequence":"additional","affiliation":[{"name":"Dipartimento di Bioscienze, Biotecnologie e Ambiente, Universit\u00e0 degli Studi di Bari \u201cAldo Moro\u201d, 70125 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5299-6036","authenticated-orcid":false,"given":"Mattia","family":"Gentile","sequence":"additional","affiliation":[{"name":"U.O.C. Laboratorio di Genetica Medica, PO Di Venere\u2014ASL Bari, 70012 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s13039-022-00600-6","article-title":"Mechanisms of structural chromosomal rearrangement formation","volume":"15","author":"Burssed","year":"2022","journal-title":"Mol. Cytogenet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ejhg.2012.230","article-title":"The 2q37-deletion syndrome: An update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients","volume":"21","author":"Leroy","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Gavril, E.C., Nuc\u0103, I., P\u00e2nzaru, M.C., Ivanov, A.V., Mihai, C.T., Antoci, L.M., Ciobanu, C.G., Rusu, C., and Popescu, R. (2023). Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review. Genes, 14.","DOI":"10.3390\/genes14020465"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1136\/jmg.2003.017202","article-title":"Molecular analysis of 20 patients with 2q37.3 monosomy: Definition of minimum deletion intervals for key phenotypes","volume":"41","author":"Aldred","year":"2004","journal-title":"J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2547","DOI":"10.1002\/ajmg.a.33086","article-title":"Pure distal trisomy 2q: A rare chromosomal abnormality with recognizable phenotype","volume":"149A","author":"Elbracht","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1002\/1096-8628(20010415)100:1<13::AID-AJMG1185>3.0.CO;2-5","article-title":"Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature","volume":"100","author":"Bird","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1002\/(SICI)1096-8628(19990716)85:2<185::AID-AJMG16>3.0.CO;2-W","article-title":"Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome","volume":"85","author":"Seidahmed","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<126::AID-AJMG9>3.0.CO;2-H","article-title":"Case of partial duplication 2q3 with characteristic phenotype: Rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion","volume":"91","author":"Angle","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1097\/00019605-200310000-00008","article-title":"A female infant with duplication of chromosome 2q33 to 2q37.3","volume":"12","author":"Slavotinek","year":"2003","journal-title":"Clin. Dysmorphol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1111\/j.1399-0004.2009.01187.x","article-title":"Inverted duplications deletions: Underdiagnosed rearrangements?","volume":"75","author":"Zuffardi","year":"2009","journal-title":"Clin. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"2670","DOI":"10.1002\/ajmg.a.33613","article-title":"Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement","volume":"152A","author":"Bafalliu","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1007\/s00439-018-1941-9","article-title":"De novo unbalanced translocations have a complex history\/aetiology","volume":"137","author":"Bonaglia","year":"2018","journal-title":"Hum. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Hermetz, K.E., Newman, S., Conneely, K.N., Martin, C.L., Ballif, B.C., Shaffer, L.G., Cody, J.D., and Rudd, M.K. (2014). Large inverted duplications in the human genome form via a fold-back mechanism. PLoS Genet., 10.","DOI":"10.1371\/journal.pgen.1004139"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/BF00282002","article-title":"Identification of human chromosomes by DNA-binding fluorescent agents","volume":"30","author":"Caspersson","year":"1970","journal-title":"Chromosoma"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1126\/science.2294592","article-title":"High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones","volume":"247","author":"Lichter","year":"1990","journal-title":"Science"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.ajhg.2017.04.015","article-title":"Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource","volume":"100","author":"Strande","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2235","DOI":"10.1056\/NEJMsr1406261","article-title":"ClinGen--the Clinical Genome Resource","volume":"372","author":"Rehm","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1111\/j.1399-0004.2011.01818.x","article-title":"Towards an evidence-based process for the clinical interpretation of copy number variation","volume":"81","author":"Riggs","year":"2012","journal-title":"Clin. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1002\/ajmg.a.32900","article-title":"High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH)","volume":"149A","author":"Heard","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1159\/000251966","article-title":"Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female","volume":"126","author":"Hulick","year":"2009","journal-title":"Cytogenet. Genome Res."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1002\/pd.2332","article-title":"Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: Molecular delineation by multicolor banding","volume":"29","author":"Lee","year":"2009","journal-title":"Prenat. Diagn."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1136\/jmg.2008.065052","article-title":"U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements","volume":"46","author":"Rowe","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1007\/s12041-014-0459-8","article-title":"De novo dir dup\/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes","volume":"93","author":"Rivera","year":"2014","journal-title":"J. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/(SICI)1096-8628(19991203)87:4<297::AID-AJMG3>3.0.CO;2-M","article-title":"Trisomy 2q35-q37 due to insertion of 2q material into 17q25: Clinical, cytogenetic, and molecular cytogenetic characterization","volume":"87","author":"Fritz","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.ejmg.2005.04.009","article-title":"High resolution microarray CGH and MLPA analysis for improved genotype\/phenotype evaluation of two childhood genetic disorder cases: Ring chromosome 19 and partial duplication 2q","volume":"48","author":"Hermsen","year":"2005","journal-title":"Eur. J. Med. Genet."},{"key":"ref_26","first-page":"55","article-title":"de novo inversion-duplication of 2q35-2qter without growth retardation","volume":"35","year":"1992","journal-title":"Ann. Genet."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/12\/2194\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:36:12Z","timestamp":1760132172000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/12\/2194"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,10]]},"references-count":26,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["genes14122194"],"URL":"https:\/\/doi.org\/10.3390\/genes14122194","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2023,12,10]]}}}