{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T04:09:02Z","timestamp":1776139742771,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,10,5]],"date-time":"2015-10-05T00:00:00Z","timestamp":1444003200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on a unique case of a mosaic 20pter\u2010p13 deletion due to a somatic repair event identified by allele differentiating single nucleotide polymorphism (SNP) probes on chromosomal microarray. Small terminal deletions of 20p have been reported in a few individuals and appear to result in a variable phenotype. This patient was a 24\u2010month\u2010old female who presented with failure to thrive and speech delay. Chromosomal microarray analysis (CMA) performed on peripheral blood showed a 1.6\u2009Mb deletion involving the terminus of 20p (20pter\u201020p13). This deletion appeared mosaic by CMA and this suspicion was confirmed by fluorescence in situ hybridization (FISH) analysis. Additionally, the deletion interval at 20p was directly adjacent to 15\u2009Mb of mosaic copy\u2010neutral loss of heterozygosity (LOH). The pattern of SNP probes was highly suggestive of a somatic repair event that resulted in rescue of the deleted region using the non\u2010deleted homologue as a template. Structural mosaicism is rare and most often believed to be due to a postzygotic mechanism. This case demonstrates the additional utility of allele patterns to help distinguish mechanisms and in this case identified the possibility of either a post\u2010zygotic repair of a germline deletion or a post\u2010zygotic deletion with somatic recombination repair in a single step. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37407","type":"journal-article","created":{"date-parts":[[2015,10,5]],"date-time":"2015-10-05T16:26:33Z","timestamp":1444062393000},"page":"243-248","source":"Crossref","is-referenced-by-count":10,"title":["Mosaic deletion of 20pter due to rescue by somatic recombination"],"prefix":"10.1002","volume":"170","author":[{"given":"Megan M.","family":"Martin","sequence":"first","affiliation":[{"name":"Lineagen, Inc. Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rena J.","family":"Vanzo","sequence":"additional","affiliation":[{"name":"Lineagen, Inc. 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