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We present a detailed clinical history and physical findings of five patients with low\u2010level mosaicism of trisomy 14 detected by array\u2010based comparative genomic hybridization (array\u2010CGH) analysis or by routine chromosome analysis. These patients exhibited growth and developmental delays with variable severity, congenital anomalies, pigmentary skin lesions, and dysmorphic features. The phenotype of our patients was compared with previously described cases. This report suggests that trisomy 14 mosaicism may be more common than has been previously appreciated and also illustrates the important application of array\u2010CGH to detect low\u2010level mosaic chromosome abnormalities. We predict that a wider application of the array\u2010CGH technology will significantly increase the detection rate of low\u2010level mosaicism and will subsequently improve our ability to provide a diagnosis for patients with dysmorphic features, congenital anomalies, and developmental delay. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32287","type":"journal-article","created":{"date-parts":[[2008,4,15]],"date-time":"2008-04-15T22:24:58Z","timestamp":1208298298000},"page":"1395-1405","source":"Crossref","is-referenced-by-count":35,"title":["Low\u2010level mosaicism of trisomy 14: Phenotypic and molecular characterization"],"prefix":"10.1002","volume":"146A","author":[{"given":"Marwan","family":"Shinawi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Shao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda Jo 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