{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T00:19:52Z","timestamp":1788999592216,"version":"build-2803163510"},"reference-count":55,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T00:00:00Z","timestamp":1668038400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The most frequent microdeletion, 22q11.2 deletion syndrome (22q11.2DS), has a wide and variable phenotype that causes difficulties in diagnosis. 22q11.2DS is a contiguous gene syndrome, but due to the existence of several low-copy-number repeat sequences (LCR) it displays a high variety of deletion types: typical deletions LCR A\u2013D\u2014the most common (~90%), proximal deletions LCR A\u2013B, central deletions (LCR B, C\u2013D) and distal deletions (LCR D\u2013E, F). Methods: We conducted a retrospective study of 59 22q11.2SD cases, with the aim of highlighting phenotype\u2013genotype correlations. All cases were tested using MLPA combined kits: SALSA MLPA KIT P245 and P250 (MRC Holland). Results: most cases (76%) presented classic deletion LCR A\u2013D with various severity and phenotypic findings. A total of 14 atypical new deletions were identified: 2 proximal deletions LCR A\u2013B, 1 CES (Cat Eye Syndrome region) to LCR B deletion, 4 nested deletions LCR B\u2013D and 1 LCR C\u2013D, 3 LCR A\u2013E deletions, 1 LCR D\u2013E, and 2 small single gene deletions: delDGCR8 and delTOP3B. Conclusions: This study emphasizes the wide phenotypic variety and incomplete penetrance of 22q11.2DS. Our findings contribute to the genotype\u2013phenotype data regarding different types of 22q11.2 deletions and illustrate the usefulness of MLPA combined kits in 22q11.2DS diagnosis.<\/jats:p>","DOI":"10.3390\/genes13112083","type":"journal-article","created":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T02:03:58Z","timestamp":1668045838000},"page":"2083","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype\u2013Phenotype Correlation"],"prefix":"10.3390","volume":"13","author":[{"given":"Eva-Cristiana","family":"Gavril","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"},{"name":"Investiga\u021bii Medicale Praxis, St. Moara de Vant No 35, 700376 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2183-0690","authenticated-orcid":false,"given":"Roxana","family":"Popescu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"},{"name":"Department of Medical Genetics \u201cSaint Mary\u201d Emergency Children\u2019s Hospital, St. Vasile Lupu No 62, 700309 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7518-4049","authenticated-orcid":false,"given":"Irina","family":"Nuc\u0103","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"},{"name":"Investiga\u021bii Medicale Praxis, St. Moara de Vant No 35, 700376 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristian-Gabriel","family":"Ciobanu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6713-4244","authenticated-orcid":false,"given":"L\u0103cr\u0103mioara Ionela","family":"Butnariu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"},{"name":"Department of Medical Genetics \u201cSaint Mary\u201d Emergency Children\u2019s Hospital, St. Vasile Lupu No 62, 700309 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Rusu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"},{"name":"Department of Medical Genetics \u201cSaint Mary\u201d Emergency Children\u2019s Hospital, St. Vasile Lupu No 62, 700309 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6762-4067","authenticated-orcid":false,"given":"Monica-Cristina","family":"P\u00e2nzaru","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania"},{"name":"Department of Medical Genetics \u201cSaint Mary\u201d Emergency Children\u2019s Hospital, St. Vasile Lupu No 62, 700309 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e198","DOI":"10.3928\/19382359-20180419-01","article-title":"An Update on Common Chromosome Microdeletion and Microduplication Syndromes","volume":"47","author":"Goldenberg","year":"2018","journal-title":"Pediatr. Ann."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1044\/2019_AJSLP-16-0147","article-title":"Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management","volume":"28","author":"Solot","year":"2019","journal-title":"Am. J. 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