{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,24]],"date-time":"2025-05-24T22:40:10Z","timestamp":1748126410459,"version":"3.41.0"},"reference-count":25,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:p>We describe a female infant with X-linked chondrodysplasia punctata (CDPX1) as a result of maternal isodisomy of the X chromosome. Targeted Sanger sequencing and targeted next-generation sequencing of <jats:italic toggle=\"yes\">ARSL<\/jats:italic> were used to test for the familial variant. This patient was homozygous for <jats:italic toggle=\"yes\">ARSL<\/jats:italic> NM_000047.2: c.1227_1228delinsAT p.(Ser410Cys) familial variant, consistent with a diagnosis of CDPX1. Uniparental disomy is a type of chromosomal variation. Although not necessarily pathogenic, it can cause imprinting disorders and X-linked recessive disorders in females, and be a cause of autosomal recessive conditions when only one parent is a carrier. The patient described highlights that uniparental disomy can be a rare cause of X-linked recessive conditions. This mode of inheritance has not been previously described in this condition.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000419","type":"journal-article","created":{"date-parts":[[2022,3,8]],"date-time":"2022-03-08T08:00:53Z","timestamp":1646726453000},"page":"132-135","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata"],"prefix":"10.1097","volume":"31","author":[{"given":"Emily","family":"Woods","sequence":"first","affiliation":[{"name":"Sheffield Children\u2019s Hospital NHS Foundation Trust"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Yates","sequence":"additional","affiliation":[{"name":"Sheffield Clinical Genetics Service, Sheffield Children\u2019s NHS Foundation 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