{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T22:28:51Z","timestamp":1773786531858,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T00:00:00Z","timestamp":1753056000000},"content-version":"vor","delay-in-days":201,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82001531"],"award-info":[{"award-number":["82001531"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81860272"],"award-info":[{"award-number":["81860272"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004607","name":"Natural Science Foundation of Guangxi Province","doi-asserted-by":"publisher","award":["2018GXNSFAA281067"],"award-info":[{"award-number":["2018GXNSFAA281067"]}],"id":[{"id":"10.13039\/501100004607","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011827","name":"Guangxi Medical University","doi-asserted-by":"publisher","award":["2019112"],"award-info":[{"award-number":["2019112"]}],"id":[{"id":"10.13039\/501100011827","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetics Research"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>49, XXXYY is a rare form of sex chromosomal aneuploidy that has been reported in 11 cases worldwide. The parental origin of the extra sex chromosomes and the specific clinical features of this condition remain unclear. We recruited a case with 49, XXXYY and performed genome\u2010wide copy number variation analysis using next\u2010generation sequencing. In addition, the parental origin of the extra sex chromosomes was determined through short tandem repeats (STRs) locus genotyping. Furthermore, a comprehensive review and comparison of clinical phenotypes were conducted among 12 cases with 49, XXXYY. The patient exhibited a karyotype of 49, XXXYY without any mosaic patterns. No pathogenic microdeletions or microduplications (&gt; 100\u2009kb) were identified in autosomes 1\u201322. Analysis of the STR loci revealed that two of three X chromosomes originated from father. This suggests that the nondisjunction of chromosomes X and Y during stages I and II of meiotic spermatogenesis led to the production of an abnormal sperm with XXYY. Subsequently, fertilization of a normal oocyte with this abnormal sperm resulted in an abnormal zygote with pentasomy XXXYY. The main clinical features observed in these cases included varying degrees of mental retardation, minor facial dysmorphology, and gonadal or endocrine abnormalities. In conclusion, 49, XXXYY is a rare chromosomal disorder characterized by mental retardation and facial dysmorphology. Nondisjunction of chromosomes X and Y during stages I and II of meiotic spermatogenesis is a critical factor contributing to the development of this abnormal karyotype.<\/jats:p>","DOI":"10.1155\/genr\/1368153","type":"journal-article","created":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T21:03:42Z","timestamp":1753131822000},"source":"Crossref","is-referenced-by-count":0,"title":["49, XXXYY: Parental Origin, Occurrence, and Clinical Phenotypes"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2571-2664","authenticated-orcid":false,"given":"Yufang","family":"Du","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liangrong","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianda","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunting","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meizhen","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunyan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenting","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-3156-6157","authenticated-orcid":false,"given":"Shaoke","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2917-2108","authenticated-orcid":false,"given":"Baoheng","family":"Gui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,7,21]]},"reference":[{"key":"e_1_2_13_1_2","volume-title":"Medical Genetics","author":"Chen Z.","year":"2010"},{"key":"e_1_2_13_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01213097"},{"key":"e_1_2_13_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1963.03700160055007"},{"key":"e_1_2_13_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb01693.x"},{"key":"e_1_2_13_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100407"},{"key":"e_1_2_13_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970020411"},{"key":"e_1_2_13_7_2","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.148.2.210"},{"key":"e_1_2_13_8_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.96.4.672"},{"key":"e_1_2_13_9_2","doi-asserted-by":"publisher","DOI":"10.2147\/IJGM.S348844"},{"key":"e_1_2_13_10_2","first-page":"87","article-title":"Multiple XY Syndrome: A Case Study","volume":"1","author":"Gupta A.","year":"2013","journal-title":"International Journal of Research in Applied, Natural and Social Sciences (IMPACT: IJRANSS)"},{"key":"e_1_2_13_11_2","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.1003-9406.2019.04.037"},{"key":"e_1_2_13_12_2","first-page":"39","article-title":"XXXYY Variant of Klinefelter Syndrome: A Case Report","volume":"17","author":"Alekri A.","year":"2023","journal-title":"International Journal of Health Sciences"},{"key":"e_1_2_13_13_2","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.EJ24-0015"},{"key":"e_1_2_13_14_2","first-page":"891","article-title":"The XXXXY Sex Chromosome Abnormality","volume":"87","author":"Barr M. L.","year":"1962","journal-title":"Canadian Medical Association Journal"},{"key":"e_1_2_13_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70302-8"},{"key":"e_1_2_13_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb04447.x"},{"key":"e_1_2_13_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(64)80163-3"},{"key":"e_1_2_13_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/250651a0"},{"key":"e_1_2_13_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2010.08.007"},{"key":"e_1_2_13_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-04938-0"},{"key":"e_1_2_13_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-63233-3.00024-5"},{"key":"e_1_2_13_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/35066065"},{"key":"e_1_2_13_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0959-437x(93)90111-2"},{"key":"e_1_2_13_24_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201605"},{"key":"e_1_2_13_25_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00193591"},{"key":"e_1_2_13_26_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.8.595"},{"key":"e_1_2_13_27_2","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2004.017475"},{"key":"e_1_2_13_28_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02504.x"},{"key":"e_1_2_13_29_2","doi-asserted-by":"publisher","DOI":"10.1007\/bf00201538"}],"container-title":["Genetics Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/genr\/1368153","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/genr\/1368153","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/genr\/1368153","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T18:52:48Z","timestamp":1773773568000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/genr\/1368153"}},"subtitle":[],"editor":[{"given":"Irfan","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/genr\/1368153"],"URL":"https:\/\/doi.org\/10.1155\/genr\/1368153","archive":["Portico"],"relation":{},"ISSN":["0016-6723","1469-5073"],"issn-type":[{"value":"0016-6723","type":"print"},{"value":"1469-5073","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"article-number":"1368153"}}