{"doi":"10.1002/ajmg.a.64066","title":"Distal 1q Duplication and Distal 9p Deletion: A Follow‐Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome","abstract":"<jats:title>ABSTRACT</jats:title><jats:p>Distal 1q duplication and distal 9p deletion are rare chromosomal aberrations associated with developmental delay and mild to moderate congenital malformations. There are inconsistent findings regarding the critical region for trigonocephaly within 9p deletion syndrome. A recent analysis of the largest 9p‐ cohort to date, however, delineated two critical regions and emphasized the need for replication. We report on a trigonocephalic child with a <jats:italic>de novo</jats:italic> 46.09 megabases (Mb) terminal duplication of 1q and a 5.31 Mb terminal deletion in 9p, described as 46,XX,der(9)t(1;9)(q32.1;p24.1). The clinical course was predominantly influenced by the 1q duplication. Trigonocephaly, however, was consistent with 9p deletion syndrome. Our findings support the delineation of [GRCh38] 9:3,418,241–5,341,746 as a critical region for trigonocephaly within 9p deletion syndrome. We propose that haploinsufficiency of <jats:italic>RFX3</jats:italic>, along with complex gene interactions, contributes to the mechanism for disease.</jats:p>","journal":"American Journal of Medical Genetics Part A","year":2025,"id":620016,"datarank":0.16479184330021646,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"self_citation_contribution":0.16479184330021646,"citation_network_contribution":0.0,"self_endowment_contribution":0.16479184330021646,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"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":1600338,"name":"Jürgen Kunz","orcid":null,"position":1,"is_corresponding":false},{"id":1600340,"name":"Anca Mannhardt","orcid":null,"position":2,"is_corresponding":false},{"id":1600341,"name":"Ellen Gandaputra","orcid":null,"position":3,"is_corresponding":false},{"id":1600343,"name":"Christiane Kling","orcid":null,"position":4,"is_corresponding":false},{"id":1600336,"name":"Jonas Helbig","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Distal 1q Duplication and Distal 9p Deletion: A Follow‐Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome","abstract":"<jats:title>ABSTRACT</jats:title><jats:p>Distal 1q duplication and distal 9p deletion are rare chromosomal aberrations associated with developmental delay and mild to moderate congenital malformations. There are inconsistent findings regarding the critical region for trigonocephaly within 9p deletion syndrome. A recent analysis of the largest 9p‐ cohort to date, however, delineated two critical regions and emphasized the need for replication. We report on a trigonocephalic child with a <jats:italic>de novo</jats:italic> 46.09 megabases (Mb) terminal duplication of 1q and a 5.31 Mb terminal deletion in 9p, described as 46,XX,der(9)t(1;9)(q32.1;p24.1). The clinical course was predominantly influenced by the 1q duplication. Trigonocephaly, however, was consistent with 9p deletion syndrome. Our findings support the delineation of [GRCh38] 9:3,418,241–5,341,746 as a critical region for trigonocephaly within 9p deletion syndrome. We propose that haploinsufficiency of <jats:italic>RFX3</jats:italic>, along with complex gene interactions, contributes to the mechanism for disease.</jats:p>","is_dataset_classified":null,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"40152355","pmcid":null,"openalex_id":"https://openalex.org/W4408941780","authors":[],"funders":[],"total_grants":0,"fwci":1.9509,"citation_percentile":0.84355369,"influential_citations":0,"citation_trend":[{"year":2025,"count":1},{"year":2026,"count":1}],"oa_status":"bronze","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.64066","host_type":"journal"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.64066","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.64066","host_type":"publisher"},{"url":"https://doi.org/10.1002/ajmg.a.64066","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/40152355","host_type":"repository"}],"fields_of_study":["Genomic variations and chromosomal abnormalities","Prenatal Screening and Diagnostics","Congenital Ear and Nasal Anomalies","Humans","Chromosome Deletion","Chromosomes, Human, Pair 1","Chromosomes, Human, Pair 9","Chromosome Duplication","Chromosome Disorders","Male","Female","Transcription Factors","Follow-Up Studies","Genetic Association Studies","Craniosynostoses","Infant","Child, Preschool","DNA-Binding Proteins","Chromosome 9p Deletion Syndrome"],"mesh_terms":["Child, Preschool","Chromosome Deletion","Chromosomes, Human, Pair 1","Chromosomes, Human, Pair 9","Craniosynostoses","DNA-Binding Proteins","Female","Follow-Up Studies","Humans","Infant","Male","Transcription Factors","Chromosome Disorders","Genetic Association Studies","Chromosome Duplication"],"keywords":["Haploinsufficiency","Trigonocephaly","Gene duplication","Biology","Deletion syndrome","Genetics","Copy-number variation","Gene","Phenotype","Craniosynostosis","Case Report","1Q Duplication","9P Deletion Syndrome"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-03T09:35:39.384220Z","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":[]}