{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:39:11Z","timestamp":1792658351054,"version":"4.5.0"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T00:00:00Z","timestamp":1755043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T00:00:00Z","timestamp":1755043200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UM1 TR004399"],"award-info":[{"award-number":["UM1 TR004399"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Sex chromosome aneuploidies (SCAs) are a family of genetic disorders that result from an atypical number of X and\/or Y chromosomes. SCAs are the most common chromosomal abnormality, affecting ~1\/400 live births, yet are often underdiagnosed, leading to over\u2010representation of more severely impacted individuals in many clinical studies. In addition to this ascertainment bias, existing work in SCAs has also been limited by low geographic and demographic diversity. To address these limitations, we have created the Generating Advancements with Longitudinal Analysis in X and Y variations (GALAXY) Registry. Through prioritizing sustainability, transparency, and minimizing participant burden, the overarching goal of the GALAXY Registry is to improve health outcomes for individuals with SCAs by serving as an infrastructure for future SCA research based on a large, heterogeneous, and longitudinal sample. To date, GALAXY has accrued 335 verified SCA participants with an average accrual of 11.2 participants\/month (6.7 47,XXY, 1.9 47,XXX, 2.0 47,XYY, 3.2 48,XXYY, 1.8 48,XXXY, and 1.3 Other). Demographic data between those identified to have SCA prenatally (predominantly cell\u2010free DNA screening) differ from those diagnosed postnatally for insurance status, age at enrollment, genetic test type, and reason for SCA diagnosis. Next steps include targeted recruitment of underrepresented groups (e.g., non\u201047,XXY karyotypes, older adults, minoritized individuals), extraction of medical record data into the registry, international expansion, and continued engagement with the SCA community. As a collaboration between clinician investigators and the SCA community, the GALAXY Registry is a powerful resource for future patient\u2010centered clinical research.<\/jats:p>","DOI":"10.1002\/ajmg.a.64214","type":"journal-article","created":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T07:34:04Z","timestamp":1755070444000},"page":"23-34","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Methods, and Diagnostic Characteristics for the\n                    <scp>GALAXY<\/scp>\n                    Registry"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-1157-4554","authenticated-orcid":false,"given":"Alexandra","family":"Carl","sequence":"first","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"},{"name":"eXtraOrdinarY Kids Clinic and Research Program, Children's Hospital Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1616-8137","authenticated-orcid":false,"given":"Samantha","family":"Bothwell","sequence":"additional","affiliation":[{"name":"eXtraOrdinarY Kids Clinic and Research Program, Children's Hospital Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0513-7308","authenticated-orcid":false,"given":"Karli","family":"Swenson","sequence":"additional","affiliation":[{"name":"eXtraOrdinarY Kids Clinic and Research Program, Children's Hospital Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan","family":"Bregante","sequence":"additional","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"},{"name":"Living With XXY  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3485-8104","authenticated-orcid":false,"given":"Lilian","family":"Cohen","sequence":"additional","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"},{"name":"Department of Pediatrics, Division of Medical Genetics Weill Cornell Medical College  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Cover","sequence":"additional","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"},{"name":"The Association for X and Y Chromosome Variations  Church Hill Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9372-2958","authenticated-orcid":false,"given":"Anna","family":"Dawczyk","sequence":"additional","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"},{"name":"Department of Sociology The University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail","family":"Decker","sequence":"additional","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"},{"name":"The XXYY Project  Church Hill Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-5582-2149","authenticated-orcid":false,"given":"Stephen B.","family":"Gerken","sequence":"additional","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9515-881X","authenticated-orcid":false,"given":"David","family":"Hong","sequence":"additional","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"},{"name":"Department of Psychiatry and Interdisciplinary Brain Sciences Stanford University  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7115-2165","authenticated-orcid":false,"given":"Susan","family":"Howell","sequence":"additional","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"},{"name":"eXtraOrdinarY Kids Clinic and Research Program, Children's Hospital Colorado  Aurora Colorado USA"},{"name":"Division of Developmental Pediatrics, Department of Pediatrics University of Colorado School of Medicine  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5622-1190","authenticated-orcid":false,"given":"Armin","family":"Raznahan","sequence":"additional","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"},{"name":"Developmental Neurogenomics Unit, Child Psychiatry Branch, National Institute of Mental Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7526-3142","authenticated-orcid":false,"given":"Alan D.","family":"Rogol","sequence":"additional","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"},{"name":"Pediatric Diabetes and Endocrinology University of Virginia  Charlottesville Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8529-6722","authenticated-orcid":false,"given":"Nicole","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"},{"name":"eXtraOrdinarY Kids Clinic and Research Program, Children's Hospital Colorado  Aurora Colorado USA"},{"name":"Division of Developmental Pediatrics, Department of Pediatrics University of Colorado School of Medicine  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0304-9550","authenticated-orcid":false,"given":"Shanlee","family":"Davis","sequence":"additional","affiliation":[{"name":"Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Consortium"},{"name":"eXtraOrdinarY Kids Clinic and Research Program, Children's Hospital Colorado  Aurora Colorado USA"},{"name":"Division of Diabetes and Endocrinology, Department of Pediatrics University of Colorado School of Medicine  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1097\u20100223(199704)17:4<363::aid\u2010pd79>3.0.co;2\u2010o"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/MLR.0b013e31824d748b"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.05.037"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.10.012"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010018\u20100976\u20102"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002\u2010021491"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.148"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/mlr.0000000000000467"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.11.004"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/amiajnl\u20102014\u2010002743"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41390\u2010020\u201001151\u20105"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(23)01088\u20107"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14006"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12889\u2010022\u201013122\u2010y"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2008.08.010"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/jgs.16908"},{"key":"e_1_2_8_18_1","first-page":"161","volume-title":"Sex Chromosome Aneuploidy: Prospective Studies on Children","author":"Higurashi M.","year":"1979"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100519\u20109"},{"key":"e_1_2_8_20_1","first-page":"139","volume-title":"International Review of Research in Developmental Disabilities","author":"Lee N. R.","year":"2011"},{"key":"e_1_2_8_21_1","first-page":"115","volume-title":"Sex Chromosome Aneuploidy: Prospective Studies on Children","author":"Leonard M. F.","year":"1979"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.96.4.672"},{"key":"e_1_2_8_23_1","volume-title":"Health\u2010Care Utilization as a Proxy in Disability Determination","author":"National Academies of Sciences, E.,&Medicine","year":"2018"},{"key":"e_1_2_8_24_1","first-page":"15","volume-title":"Sex Chromosome Aneuploidy: Prospective Studies on Children","author":"Neilson J.","year":"1979"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eurox.2023.100248"},{"issue":"4","key":"e_1_2_8_26_1","first-page":"209","article-title":"Sex Chromosome Abnormalities Found Among 34,910 Newborn Children: Results From a 13\u2010Year Incidence Study in Arhus, Denmark","volume":"26","author":"Nielsen J.","year":"1990","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_8_27_1","first-page":"243","volume-title":"Sex Chromosome Aneuploidy: Prospective Studies on Children","author":"Ratcliffe S. G.","year":"1979"},{"key":"e_1_2_8_28_1","first-page":"203","volume-title":"Sex Chromosome Aneuploidy: Prospective Studies on Children","author":"Robinson A.","year":"1979"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/s2215\u20100366(23)00004\u20104"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63441"},{"key":"e_1_2_8_31_1","first-page":"75","volume-title":"Sex Chromosome Aneuploidy: Prospective Studies on Children","author":"Stewart D. A.","year":"1979"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31807"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2013.806477"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010022\u201002357\u2010y"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1532"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37688"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64214","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.64214","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64214","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T07:54:08Z","timestamp":1792655648000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,13]]},"references-count":35,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1002\/ajmg.a.64214"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64214","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,13]]},"assertion":[{"value":"2024-12-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}