{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:02Z","timestamp":1747146122944,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T00:00:00Z","timestamp":1684886400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Kagami\u2010Ogata syndrome and Temple syndrome are imprinting disorders caused by the abnormal expression of genes in an imprinted cluster on chromosome 14q32. Here, we report a female with mild features of the Kagami\u2010Ogata syndrome phenotype with polyhydramnios, neonatal hypotonia, feeding difficulties, abnormal foot morphology, patent foramen ovale, distal arthrogryposis, normal facial profile, and a bell\u2010shaped thorax without coat hanger ribs. The single nucleotide polymorphism array revealed the interstitial deletion of chromosome 14q32.2\u2013q32.31 (117\u2009kb in size), involving the <jats:italic>RTL1as<\/jats:italic> and <jats:italic>MEG8<\/jats:italic> genes, and other small nucleolar RNAs and <jats:italic>microRNAs<\/jats:italic>. The differentially methylated regions (DMRs) appeared unaltered. The <jats:italic>RTL1as<\/jats:italic> gene deletion and the normal methylation pattern of the <jats:italic>MEG3<\/jats:italic> gene loci were confirmed by methylation\u2010specific multiplex ligation\u2010dependent probe amplification. Deletions of the 14q32 region without involving DMRs, and encompassing only the <jats:italic>RTL1as<\/jats:italic> and <jats:italic>MEG8<\/jats:italic> genes, are poorly described in the literature. The mother's chromosomal microarray also confirmed the identical 14q32.2 deletion, although she presented a normal phenotype. The maternally inherited 14q32 deletion was responsible for Kagami\u2010Ogata syndrome in our patient. It was not sufficient, however, to produce Temple syndrome or any other pathogenic phenotype in the patient's mother.<\/jats:p>","DOI":"10.1002\/ajmg.a.63251","type":"journal-article","created":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T09:14:09Z","timestamp":1684919649000},"page":"2225-2231","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Maternally inherited deletion encompassing the <scp><i>RTL1as<\/i><\/scp> and <scp><i>MEG8<\/i><\/scp> genes of the human 14q32 imprinted region in a patient with a mild Kagami\u2010Ogata syndrome phenotype"],"prefix":"10.1002","volume":"191","author":[{"given":"Paula","family":"Sirera Sirera","sequence":"first","affiliation":[{"name":"Laboratory of Molecular Cytogenetics Instituto de Investigaci\u00f3n Sanitaria y Biom\u00e9dica de Alicante (ISABIAL), Hospital General Universitario de Dr. Balmis de Alicante  Alicante Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0032-0197","authenticated-orcid":false,"given":"Elena","family":"Garc\u00eda\u2010Pay\u00e1","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Cytogenetics Instituto de Investigaci\u00f3n Sanitaria y Biom\u00e9dica de Alicante (ISABIAL), Hospital General Universitario de Dr. Balmis de Alicante  Alicante Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Olivas Garc\u00eda","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Cytogenetics Instituto de Investigaci\u00f3n Sanitaria y Biom\u00e9dica de Alicante (ISABIAL), Hospital General Universitario de Dr. Balmis de Alicante  Alicante Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roc\u00edo","family":"Jadraque Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Instituto de Investigaci\u00f3n Sanitaria y Biom\u00e9dica de Alicante (ISABIAL), Hospital General Universitario de Dr. Balmis de Alicante  Alicante Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sof\u00eda Daniela","family":"Hern\u00e1ndez Romero","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Cytogenetics Instituto de Investigaci\u00f3n Sanitaria y Biom\u00e9dica de Alicante (ISABIAL), Hospital General Universitario de Dr. Balmis de Alicante  Alicante Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,5,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.22815"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.72"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/15592294.2018.1514233"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1296-1"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37293"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0506-z"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.13"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.53"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000992"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.56"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000158"},{"key":"e_1_2_10_13_1","doi-asserted-by":"crossref","unstructured":"Karger AG S.(2020).ISCN 2020. 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