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UPD was initially suspected when SNP microarray analysis detected a large region of homozygosity on chromosome 14 and the patient's clinical features were consistent with the phenotype of upd(14)mat. However, SNP arrays cannot prove UPD, as homozygosity may also result from identity by descent. Methylation assays diagnose imprinting disorders such as Prader\u2013Willi, Angelman and Temple syndromes; they detect methylation defects that occur in imprinted loci, which have parent\u2010of\u2010origin\u2010specific expression and have the advantage of making a diagnosis without parental samples. However, in this patient methylation analysis using endpoint PCR detected biparental inheritance. Therefore, sequencing analysis was performed and diagnosed upd(14)mat. Re\u2010examination of the microarray suggested that the explanation for the discrepancy between the array and methylation testing was low\u2010level mosaicism for trisomy 14 and fluorescence in situ hybridization testing detected a trisomic cell line. Thus, this patient's Temple syndrome is a result of a maternal M1 error, which gave a trisomic zygote, followed by loss of the paternal chromosome 14 in an early mitotic division to give maternal UPD with low\u2010level mosaicism for trisomy 14. The methylation assay detected the paternal allele in the trisomic line. The diagnostic failure of the methylation assay in this patient highlights a significant shortcoming of methylation endpoint analysis, especially for Temple syndrome, and underscores the need to use other methods in cases with mosaicism.<\/jats:p>","DOI":"10.1002\/ajmg.a.62128","type":"journal-article","created":{"date-parts":[[2021,2,20]],"date-time":"2021-02-20T10:31:00Z","timestamp":1613817060000},"page":"1538-1543","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low\u2010level mosaicism for trisomy 14"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6457-9072","authenticated-orcid":false,"given":"Valerie","family":"Lindgren","sequence":"first","affiliation":[{"name":"Department of Pathology University of Illinois at Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Cobian","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Genetics University of Illinois at Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gifty","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Genetics University of Illinois at Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,2,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagen.2009.02.001"},{"key":"e_1_2_8_3_1","first-page":"1145","article-title":"Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14","volume":"52","author":"Antonarakis S. 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