{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:39Z","timestamp":1753869699357,"version":"3.41.2"},"reference-count":42,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T00:00:00Z","timestamp":1710115200000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Retinoblastoma (Rb) is the most common intraocular malignancy in childhood, originating from primitive retinal stem cells or cone precursor cells. It can be triggered by mutations of the <jats:italic>RB1<\/jats:italic> gene or amplification of the <jats:italic>MYCN<\/jats:italic> gene. Rb may rarely present with polydactyly.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted karyotype analysis, copy number variation sequencing, and whole\u2010genome sequencing on the infant proband and his family. The clinical course and laboratory results of the proband's infant were documented and collected. We also reviewed the relevant literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 68\u2010day\u2010old boy presented with preaxial polydactyly and corneal edema. His intraocular pressure (IOP) was 40\/19\u2009mmHg, and color Doppler imaging revealed vitreous solid mass\u2010occupying lesions with calcification in the right eye. Ocular CT showed flaky high\u2010density and calcification in the right eye. This was classified as an International Retinoblastoma Staging System group E retinoblastoma with an indication for enucleation. Enucleation and orbital implantation were performed on the child's right eye. Karyotype analysis revealed an abnormal 46, XY, 15pstk+ karyotype, and the mother exhibited diploidy of the short arm of chromosome 15. The <jats:italic>Alx\u20104<\/jats:italic> development factor, 13q deletion syndrome, and the <jats:italic>PAPA2<\/jats:italic> gene have been reported as potential mechanisms for Rb combined with polydactyly.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report the case of a baby boy with Rb and polydactyly exhibiting a 46, XY, 15pstk+ Karyotype. We discuss potential genetic factors related to both Rb and polydactyly. Furthermore, there is a need for further exploration into the impact of chromosomal polymorphisms in Rb with polydactyly.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2414","type":"journal-article","created":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T12:05:11Z","timestamp":1710158711000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Retinoblastoma and polydactyly in a child with 46, <scp>XY<\/scp>, 15pstk+ karyotype\u2014A case report and literature review"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7718-2696","authenticated-orcid":false,"given":"Xiaohuan","family":"Pi","sequence":"first","affiliation":[{"name":"Department of Ophthalmology The Sixth Hospital of Wuhan, Affiliated Hospital of Jianghan University  Wuhan 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