{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"bioRxiv"}],"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T09:20:33Z","timestamp":1771060833401,"version":"3.50.1"},"posted":{"date-parts":[[2026,2,10]]},"group-title":"Neuroscience","reference-count":55,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T00:00:00Z","timestamp":1770681600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"NIH","award":["K23MH097120"],"award-info":[{"award-number":["K23MH097120"]}]},{"name":"NIH","award":["R21MH099630"],"award-info":[{"award-number":["R21MH099630"]}]},{"name":"NIH","award":["R01HD049653"],"award-info":[{"award-number":["R01HD049653"]}]},{"DOI":"10.13039\/100015521","name":"Stanford Maternal Child Health Research Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100015521","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2026,2,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:p>Females have two X chromosomes, one of which is inactivated early in development with specific regions and genes \u2018escaping\u2019 inactivation. Thus, X chromosome loss putatively results in decreased \u2018dosage\u2019 of X chromosome escapee and pseudoautosomal genes, impacting downstream pathways. Evidence from Turner syndrome indicates that X chromosome monosomy results in consistent neuroanatomical and cognitive phenotypes. However, it remains unclear whether mosaic karyotypes, with mixed proportions of 45X and 46XX cells, attenuate these phenotypes. We examined whether X chromosome mosaicism is predicted by neuroanatomical and cognitive features. Higher proportion of 46XX cells was significantly predicted by structural properties in somatosensory, motor, visual, and language brain areas, and by performance in visuospatial, fine-motor, and language tasks. Thus, mosaicism partially \u2018rescues\u2019 phenotypes linked to full 45X monosomy and may explain the role of the X chromosome not only across heterogeneous phenotypic expression in females, but also in sex differences observed in neuropsychiatric conditions.<\/jats:p>","DOI":"10.64898\/2026.02.07.704538","type":"posted-content","created":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T18:15:19Z","timestamp":1770747319000},"source":"Crossref","is-referenced-by-count":0,"title":["Relationship between X chromosome mosaicism, neuroanatomy and cognitive performance in females"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4885-0309","authenticated-orcid":false,"given":"Iliana I.","family":"Karipidis","sequence":"first","affiliation":[{"name":"Center for Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, School of Medicine, Stanford University, USA"},{"name":"Department of Child and Adolescent Psychiatry and Psychotherapy, Psychiatric University Hospital Zurich, University of Zurich, Switzerland"},{"name":"Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan","family":"Klabunde","sequence":"additional","affiliation":[{"name":"Center for Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, School of Medicine, Stanford University, USA"},{"name":"Centre for Brain Science, Psychology Department, University of Essex, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracy","family":"Jordan","sequence":"additional","affiliation":[{"name":"Center for Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, School of Medicine, Stanford University, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lindsay","family":"Chromik","sequence":"additional","affiliation":[{"name":"Center for Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, School of Medicine, Stanford University, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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