{"doi":"10.3390/genes13112083","title":"Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype–Phenotype Correlation","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–D—the most common (~90%), proximal deletions LCR A–B, central deletions (LCR B, C–D) and distal deletions (LCR D–E, F). Methods: We conducted a retrospective study of 59 22q11.2SD cases, with the aim of highlighting phenotype–genotype 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–D with various severity and phenotypic findings. A total of 14 atypical new deletions were identified: 2 proximal deletions LCR A–B, 1 CES (Cat Eye Syndrome region) to LCR B deletion, 4 nested deletions LCR B–D and 1 LCR C–D, 3 LCR A–E deletions, 1 LCR D–E, 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–phenotype data regarding different types of 22q11.2 deletions and illustrate the usefulness of MLPA combined kits in 22q11.2DS diagnosis.</jats:p>","journal":"Genes","year":2022,"id":628638,"datarank":0.47670807455219194,"base_score":3.1780538303479458,"endowment":3.1780538303479458,"self_citation_contribution":0.47670807455219194,"citation_network_contribution":0.0,"self_endowment_contribution":0.47670807455219194,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":23,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":4,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1627679,"name":"Roxana Popescu","orcid":"0000-0002-2183-0690","position":1,"is_corresponding":false},{"id":1627680,"name":"Irina Nucă","orcid":"0000-0002-7518-4049","position":2,"is_corresponding":false},{"id":1627681,"name":"Cristian-Gabriel Ciobanu","orcid":null,"position":3,"is_corresponding":false},{"id":1562735,"name":"Lăcrămioara Ionela Butnariu","orcid":"0000-0002-6713-4244","position":4,"is_corresponding":false},{"id":1627682,"name":"Cristina Rusu","orcid":null,"position":5,"is_corresponding":false},{"id":1627683,"name":"Monica-Cristina Pânzaru","orcid":"0000-0002-6762-4067","position":6,"is_corresponding":false},{"id":1627678,"name":"Eva-Cristiana Gavril","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype–Phenotype Correlation","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–D—the most common (~90%), proximal deletions LCR A–B, central deletions (LCR B, C–D) and distal deletions (LCR D–E, F). Methods: We conducted a retrospective study of 59 22q11.2SD cases, with the aim of highlighting phenotype–genotype 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–D with various severity and phenotypic findings. A total of 14 atypical new deletions were identified: 2 proximal deletions LCR A–B, 1 CES (Cat Eye Syndrome region) to LCR B deletion, 4 nested deletions LCR B–D and 1 LCR C–D, 3 LCR A–E deletions, 1 LCR D–E, 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–phenotype data regarding different types of 22q11.2 deletions and illustrate the usefulness of MLPA combined kits in 22q11.2DS diagnosis.</jats:p>","is_dataset_classified":null,"base_score":3.1780538303479458,"endowment":3.1780538303479458,"datacite_reuse_total":4,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"36360320","pmcid":"PMC9690028","openalex_id":"https://openalex.org/W4308873418","authors":[],"funders":[],"total_grants":0,"fwci":1.646,"citation_percentile":0.84245456,"influential_citations":0,"citation_trend":[{"year":2023,"count":4},{"year":2024,"count":6},{"year":2025,"count":11},{"year":2026,"count":2}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.mdpi.com/2073-4425/13/11/2083/pdf?version=1668058503","host_type":"journal"},{"url":"https://www.mdpi.com/2073-4425/13/11/2083/pdf?version=1668058503","host_type":"publisher"},{"url":"https://www.mdpi.com/2073-4425/13/11/2083/pdf","host_type":"publisher"},{"url":"https://doi.org/10.3390/genes13112083","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/36360320","host_type":"repository"},{"url":"https://doaj.org/article/c4072f56441043c992c0f6c4570f1b81","host_type":"repository"},{"url":"https://dx.doi.org/10.3390/genes13112083","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9690028","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC9690028","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC9690028?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Congenital heart defects research","Genomic variations and chromosomal abnormalities","Congenital Ear and Nasal Anomalies","Humans","DiGeorge Syndrome","Segmental Duplications, Genomic","Retrospective Studies","Genetic Association Studies"],"mesh_terms":["DiGeorge Syndrome","Humans","Retrospective Studies","Genetic Association Studies","Segmental Duplications, Genomic"],"keywords":["Multiplex ligation-dependent probe amplification","Penetrance","Genetics","Biology","Phenotype","Copy-number variation","Genotype","Gene","Molecular biology","Genome","Exon","Mlpa","22Q11.2ds","Low-copy Repeats Sequences"],"sdg_mappings":[],"linked_datasets":[{"doi":"10.6084/m9.figshare.26816149.v1","title":"Additional file 1 of Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.26816149","title":"Additional file 1 of Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.26816311.v1","title":"Additional file 2 of Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.26816311","title":"Additional file 2 of Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study","publisher":"figshare","resource_type":"JournalArticle"}],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-05T14:24:20.178959Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}