{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:12:11Z","timestamp":1789431131285,"version":"build-2803163510"},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,6,30]],"date-time":"2025-06-30T00:00:00Z","timestamp":1751241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,6,30]],"date-time":"2025-06-30T00:00:00Z","timestamp":1751241600000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    To date, only one study describes three unrelated cases of neurodevelopmental disorders associated with duplications in 22q13.2, which include the\n                    <jats:italic>TCF20<\/jats:italic>\n                    gene. In contrast,\n                    <jats:italic>TCF20<\/jats:italic>\n                    variants and deletions are well characterized. Here, we report six new cases of 22q13.2 gain, including\n                    <jats:italic>TCF20<\/jats:italic>\n                    , identified through array\u2010comparative genomic hybridization (array\u2010CGH). Probands exhibited neurodevelopmental delay, and several presented with facial dysmorphism, abnormal growth parameters, and abnormalities affecting the skeletal, respiratory, genitourinary, and\/or cardiovascular systems. We documented one 440 Kb triplication and five cases of duplication ranging from 82.5 Kb to 3.03\u2009Mb in size. Co\u2010segregation analysis of the CNV and clinical symptoms supports variable expressivity. However, the complete penetrance of these gains remains questionable compared to the known pathogenic variants and structural variations associated with loss of function. We discuss the genotype\u2013phenotype correlations and hypotheses surrounding the impairment of TCF20 protein function.\n                  <\/jats:p>","DOI":"10.1111\/cge.14781","type":"journal-article","created":{"date-parts":[[2025,6,30]],"date-time":"2025-06-30T03:34:30Z","timestamp":1751254470000},"page":"731-741","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Six New Cases of 22q13.2 Gain Including\n                    <scp>\n                      <i>TFC20<\/i>\n                    <\/scp>\n                    : First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays"],"prefix":"10.1111","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9481-515X","authenticated-orcid":false,"given":"Etienne","family":"Bizot","sequence":"first","affiliation":[{"name":"P\u00e9diatrie APHP.H\u00f4pitaux Universitaires Paris Saclay  Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dima","family":"Jouni","sequence":"additional","affiliation":[{"name":"M\u00e9decine G\u00e9nomique et Pharmacog\u00e9nomique APHP.H\u00f4pitaux Universitaires Paris Saclay  Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Rooryck","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, G\u00e9n\u00e9tique M\u00e9dicale  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliet","family":"Taylor","sequence":"additional","affiliation":[{"name":"Genetic Health Service NZ (Northern Hub), Te Toka Tumai  Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Legendre","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, G\u00e9n\u00e9tique M\u00e9dicale  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorelei","family":"Charbonnier","sequence":"additional","affiliation":[{"name":"P\u00e9diatrie APHP.H\u00f4pitaux Universitaires Paris Saclay  Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Metreau","sequence":"additional","affiliation":[{"name":"P\u00e9diatrie APHP.H\u00f4pitaux Universitaires Paris Saclay  Clamart France"},{"name":"Neurop\u00e9diatrie, APHP.H\u00f4pitaux Universitaires Paris Saclay  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Benaloun","sequence":"additional","affiliation":[{"name":"M\u00e9decine G\u00e9nomique et Pharmacog\u00e9nomique APHP.H\u00f4pitaux Universitaires Paris Saclay  Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Pinson","sequence":"additional","affiliation":[{"name":"M\u00e9decine G\u00e9nomique et Pharmacog\u00e9nomique APHP.H\u00f4pitaux Universitaires Paris Saclay  Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Quenum","sequence":"additional","affiliation":[{"name":"M\u00e9decine G\u00e9nomique et Pharmacog\u00e9nomique APHP.H\u00f4pitaux Universitaires Paris Saclay  Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Bouligand","sequence":"additional","affiliation":[{"name":"M\u00e9decine G\u00e9nomique et Pharmacog\u00e9nomique APHP.H\u00f4pitaux Universitaires Paris Saclay  Clamart France"},{"name":"Facult\u00e9 de M\u00e9decine\u2014Universit\u00e9 Paris\u2010Saclay  Le Kremlin Bic\u00eatre France"},{"name":"Physiologie et Physiopathologie Endocriniennes, Inserm UMRS1185  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9rard","family":"Tachdjian","sequence":"additional","affiliation":[{"name":"M\u00e9decine G\u00e9nomique et Pharmacog\u00e9nomique APHP.H\u00f4pitaux Universitaires Paris Saclay  Clamart France"},{"name":"Facult\u00e9 de M\u00e9decine\u2014Universit\u00e9 Paris\u2010Saclay  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Labrune","sequence":"additional","affiliation":[{"name":"P\u00e9diatrie APHP.H\u00f4pitaux Universitaires Paris Saclay  Clamart France"},{"name":"Facult\u00e9 de M\u00e9decine\u2014Universit\u00e9 Paris\u2010Saclay  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Tosca","sequence":"additional","affiliation":[{"name":"M\u00e9decine G\u00e9nomique et Pharmacog\u00e9nomique APHP.H\u00f4pitaux Universitaires Paris Saclay  Clamart France"},{"name":"Facult\u00e9 de M\u00e9decine\u2014Universit\u00e9 Paris\u2010Saclay  Le Kremlin Bic\u00eatre France"},{"name":"Physiologie et Physiopathologie Endocriniennes, Inserm UMRS1185  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14099"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.15252\/embr.201949239"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2024.148956"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1192668"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr\u20102022\u2010248995"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14111998"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2022.07.026"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100454\u20109"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40492"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073\u2010019\u20100630\u20101"}],"container-title":["Clinical 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