{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T21:23:32Z","timestamp":1790717012465,"version":"4.1.0"},"reference-count":47,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T00:00:00Z","timestamp":1678320000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Science Centre","award":["2015\/17\/B\/NZ5\/01357"],"award-info":[{"award-number":["2015\/17\/B\/NZ5\/01357"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in the genome can affect clinical variation among patients with the recurrent deletion. To examine the presence of additional variants affecting the phenotype, we performed microarray in 82 prenatal and 77 postnatal cases and performed exome sequencing in 86 postnatal patients with 22q11.2DS. Within those 159 patients where array was performed, 5 pathogenic and 5 likely pathogenic CNVs were identified outside of the 22q11.2 region. This indicates that in 6.3% cases, additional CNVs most likely contribute to the clinical presentation. Additionally, exome sequencing in 86 patients revealed 3 pathogenic (3.49%) and 5 likely pathogenic (5.81%) SNVs and small CNV. These results show that the extension of diagnostics with genome-wide methods can reveal other clinically relevant changes in patients with 22q11 deletion syndrome.<\/jats:p>","DOI":"10.3390\/genes14030680","type":"journal-article","created":{"date-parts":[[2023,3,10]],"date-time":"2023-03-10T03:02:08Z","timestamp":1678417328000},"page":"680","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7959-044X","authenticated-orcid":false,"given":"Marta","family":"Smyk","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6484-8751","authenticated-orcid":false,"given":"Maciej","family":"Geremek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamila","family":"Ziemkiewicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Gambin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland"},{"name":"Institute of Computer Science, Warsaw University of Technology, 75, 00-662 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5295-7363","authenticated-orcid":false,"given":"Anna","family":"Kutkowska-Ka\u017amierczak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9867-063X","authenticated-orcid":false,"given":"Katarzyna","family":"Kowalczyk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izabela","family":"Plaskota","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6533-3090","authenticated-orcid":false,"given":"Barbara","family":"Wi\u015bniowiecka-Kowalnik","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Bartnik-G\u0142aska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5485-1607","authenticated-orcid":false,"given":"Magdalena","family":"Niemiec","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominika","family":"Grad","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Piotrowicz","sequence":"additional","affiliation":[{"name":"Department of Genetics, Polish Mother\u2019s Memorial Hospital Research Institute, 70-445 \u0141\u00f3d\u017a, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Gieruszczak-Bia\u0142ek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Children\u2019s Memorial Health Institute, 04730 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Pietrzyk","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology, Pomeranian Medical University, 70-204 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3272-5458","authenticated-orcid":false,"given":"T. Blaine","family":"Crowley","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center, the Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Giunta","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center, the Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel E.","family":"McGinn","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center, the Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center, the Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oanh","family":"Tran","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center, the Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9207-6955","authenticated-orcid":false,"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center, the Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4077-250X","authenticated-orcid":false,"given":"Donna M.","family":"McDonald-McGinn","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center, the Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata A.","family":"Nowakowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"E802","DOI":"10.9778\/cmajo.20200294","article-title":"Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: A cross-sectional analysis from population-based newborn screening","volume":"9","author":"Blagojevic","year":"2021","journal-title":"CMAJ Open"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2058","DOI":"10.1002\/ajmg.a.40637","article-title":"What is new with 22q? 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