{"doi":"10.1002/ajmg.c.31795","title":"Sex chromosome aneuploidy alters the relationship between neuroanatomy and cognition","abstract":"Sex chromosome aneuploidy (SCA) increases the risk for cognitive deficits, and confers changes in regional cortical thickness (CT) and surface area (SA). Neuroanatomical correlates of inter-individual variation in cognitive ability have been described in health, but are not well-characterized in SCA. Here, we modeled relationships between general cognitive ability (estimated using full-scale IQ [FSIQ] from Wechsler scales) and regional estimates of SA and CT (from structural MRI scans) in both aneuploid (28 XXX, 55 XXY, 22 XYY, 19 XXYY) and typically-developing euploid (79 XX, 85 XY) individuals. Results indicated widespread decoupling of normative anatomical-cognitive relationships in SCA: we found five regions where SCA significantly altered SA-FSIQ relationships, and five regions where SCA significantly altered CT-FSIQ relationships. The majority of areas were characterized by the presence of positive anatomy-IQ relationships in health, but no or slightly negative anatomy-IQ relationships in SCA. Disrupted anatomical-cognitive relationships generalized from the full cohort to karyotypically defined subcohorts (i.e., XX-XXX; XY-XYY; XY-XXY), demonstrating continuity across multiple supernumerary SCA conditions. As the first direct evidence of altered regional neuroanatomical-cognitive relationships in supernumerary SCA, our findings shed light on potential genetic and structural correlates of the cognitive phenotype in SCA, and may have implications for other neurogenetic disorders.","journal":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","year":2020,"id":81181,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":14,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9505,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":232628,"name":"Siyuan Liu","orcid":"0000-0003-3661-6248","position":1,"is_corresponding":false},{"id":361824,"name":"Kathleen Wilson","orcid":"0000-0003-0523-0625","position":2,"is_corresponding":false},{"id":420152,"name":"Ethan T. Whitman","orcid":"0000-0002-3208-171X","position":3,"is_corresponding":false},{"id":420153,"name":"François Lalonde","orcid":"0000-0003-4250-6088","position":4,"is_corresponding":false},{"id":234463,"name":"Liv Clasen","orcid":null,"position":5,"is_corresponding":false},{"id":234464,"name":"Jonathan D. Blumenthal","orcid":null,"position":6,"is_corresponding":false},{"id":232635,"name":"Armin Raznahan","orcid":"0000-0002-5622-1190","position":7,"is_corresponding":false},{"id":420151,"name":"Allysa Warling","orcid":"0000-0001-9412-6357","position":0,"is_corresponding":true}],"reference_count":89,"raw_metadata":null,"created_at":"2026-07-18T21:52:34.401799Z","pmid":"32515138","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":[]}