{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:40:01Z","timestamp":1788306001956,"version":"build-2803163510"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,11,14]],"date-time":"2015-11-14T00:00:00Z","timestamp":1447459200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Medical Genetics Research Fellowship Program NIH\/NIGMS NIH","award":["T32 GM07526-37"],"award-info":[{"award-number":["T32 GM07526-37"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Triploid mosaicism is a rare aneuploidy syndrome characterized by growth retardation, developmental delay, 3\u20134 syndactyly, microphthalmia, coloboma, cleft lip and\/or palate, genitourinary anomalies, and facial or body asymmetry. In the present report, we describe a 3\u2010month\u2010old female presenting with failure to thrive, growth retardation, and developmental delay. A chromosomal microarray demonstrated monosomy X, but her atypical phenotype prompted further evaluation with a chromosome analysis, which demonstrated 45,X\/68,XX mixoploidy. To our knowledge, this is the first report of a patient with this chromosome complement. Mosaicism in chromosomal aneuploidies is likely under\u2010recognized and may obscure the clinical diagnosis. At a time when comparative genomic hybridization and genome sequencing are increasingly used as diagnostic tools, this report highlights the clinical utility of chromosome analysis when a molecular diagnosis is not consistent with the observed phenotype. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37469","type":"journal-article","created":{"date-parts":[[2015,11,14]],"date-time":"2015-11-14T07:16:19Z","timestamp":1447485379000},"page":"694-698","source":"Crossref","is-referenced-by-count":8,"title":["Triploidy mosaicism (45,X\/68,XX) in an infant presenting with failure to thrive"],"prefix":"10.1002","volume":"170","author":[{"given":"Jennifer E.","family":"Posey","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikki","family":"Mohrbacher","sequence":"additional","affiliation":[{"name":"Department of 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