{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T05:58:53Z","timestamp":1776319133549,"version":"3.50.1"},"reference-count":24,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,4,21]],"date-time":"2024-04-21T00:00:00Z","timestamp":1713657600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"State of S\u00e3o Paulo Research Foundation\u2014FAPESP","award":["2012\/51799-6"],"award-info":[{"award-number":["2012\/51799-6"]}]},{"name":"State of S\u00e3o Paulo Research Foundation\u2014FAPESP","award":["2018\/08890-9"],"award-info":[{"award-number":["2018\/08890-9"]}]},{"name":"State of S\u00e3o Paulo Research Foundation\u2014FAPESP","award":["304684\/2023-6"],"award-info":[{"award-number":["304684\/2023-6"]}]},{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development\u2014CNPq","doi-asserted-by":"publisher","award":["2012\/51799-6"],"award-info":[{"award-number":["2012\/51799-6"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development\u2014CNPq","doi-asserted-by":"publisher","award":["2018\/08890-9"],"award-info":[{"award-number":["2018\/08890-9"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development\u2014CNPq","doi-asserted-by":"publisher","award":["304684\/2023-6"],"award-info":[{"award-number":["304684\/2023-6"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior\u2014CAPES","award":["2012\/51799-6"],"award-info":[{"award-number":["2012\/51799-6"]}]},{"name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior\u2014CAPES","award":["2018\/08890-9"],"award-info":[{"award-number":["2018\/08890-9"]}]},{"name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior\u2014CAPES","award":["304684\/2023-6"],"award-info":[{"award-number":["304684\/2023-6"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was determined for 61 individuals with 22q11.2DS by genotyping DNA microsatellite markers and single-nucleotide polymorphisms (SNPs). Among the 61 individuals, 29 (47.5%) had a maternal origin of the deletion, and 32 (52.5%) a paternal origin. Comparison of the frequency of the main clinical features between individuals with deletions of maternal or paternal origin showed no statistically significant difference. However, Truncus arteriosus, pulmonary atresia, seizures, and scoliosis were only found in patients with deletions of maternal origin. Also, a slight difference in the frequency of other clinical features between groups of maternal or paternal origin was noted, including congenital heart disease, endocrinological alterations, and genitourinary abnormalities, all of them more common in patients with deletions of maternal origin. Although parental origin of the deletion does not seem to contribute to the phenotypic variability of most clinical signs observed in 22q11.2DS, these findings suggest that patients with deletions of maternal origin could have a more severe phenotype. Further studies with larger samples focusing on these specific features could corroborate these findings.<\/jats:p>","DOI":"10.3390\/genes15040518","type":"journal-article","created":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T09:53:52Z","timestamp":1713779632000},"page":"518","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4487-1196","authenticated-orcid":false,"given":"Melissa Bittencourt","family":"de Wallau","sequence":"first","affiliation":[{"name":"Medical Genetics and Genomic Medicine, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Carolina","family":"Xavier","sequence":"additional","affiliation":[{"name":"Centrinho Prefeito Luiz Gomes, Joinville 89203-020, Santa Catarina, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina Ara\u00fajo","family":"Moreno","sequence":"additional","affiliation":[{"name":"Medical Genetics and Genomic Medicine, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1754-1300","authenticated-orcid":false,"given":"Chong Ae","family":"Kim","sequence":"additional","affiliation":[{"name":"Instituto da Crian\u00e7a, Hospital de Cl\u00ednicas, FMUSP, S\u00e3o Paulo 05403-000, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine Lustosa","family":"Mendes","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica do Hospital de Cl\u00ednicas da UFPR, Curitiba 80060-900, Paran\u00e1, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erlane Marques","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica do Hospital Infantil Albert Sabin\u2014HIAS, Fortaleza 60410-794, Cear\u00e1, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Centro de Aten\u00e7\u00e3o aos Defeitos da Face\u2014CADEFI, Recife 50060-293, Pernambuco, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T\u00eamis Maria","family":"F\u00e9lix","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica do Hospital de Cl\u00ednicas de Porto Alegre\u2014HCPA, Porto Alegre 90035-903, Rio Grande do Sul, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnes Cristina","family":"Fett-Conte","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica da Faculdade de Medicina de S\u00e3o Jos\u00e9 do Rio Preto (FAMERP\/FUNFARME), S\u00e3o Jos\u00e9 do Rio Preto 15090-000, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciana Cardoso","family":"Bonadia","sequence":"additional","affiliation":[{"name":"Medical Genetics and Genomic Medicine, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela Rold\u00e3o","family":"Correia-Costa","sequence":"additional","affiliation":[{"name":"Medical Genetics and Genomic Medicine, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0992-2151","authenticated-orcid":false,"given":"Isabella Lopes","family":"Monlle\u00f3","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica do Hospital Universit\u00e1rio Prof. Alberto Antunes (HUPAA), Faculdade de Medicina, Universidade Federal de Alagoas (UFAL), Macei\u00f3 57072-900, Alagoas, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1288-0554","authenticated-orcid":false,"given":"Vera L\u00facia","family":"Gil-da-Silva-Lopes","sequence":"additional","affiliation":[{"name":"Medical Genetics and Genomic Medicine, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4027-8341","authenticated-orcid":false,"given":"T\u00e1rsis Paiva","family":"Vieira","sequence":"additional","affiliation":[{"name":"Medical Genetics and Genomic Medicine, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Vervoort, L., and Vermeesch, J.R. 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