{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T23:21:19Z","timestamp":1767828079472,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,2]],"date-time":"2015-04-02T00:00:00Z","timestamp":1427932800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Ministry of Health, Labour, and Welfare of Japan"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Clinical phenotypes in individuals with a supernumerary marker chromosome (SMC) are mainly caused by gene dosage effects due to the genes located on the SMC. An additional effect may result from uniparental disomy (UPD). Consequently, the occurrence of UPD may be a confounding factor in identifying genotype\u2010phenotype correlations in SMC syndromes. Here, we report on a patient that illustrates this problem; the phenotype of this patient was a consequence of a combined effect of gene dosage and UPD. The proband showed facial dysmorphisms, growth retardation and developmental delay. G\u2010band karyotype of the proband's peripheral blood showed the presence of mosaic SMC. A SNP array analysis documented maternal UPD20 and 20p duplication. It is known that maternal UPD20 causes prenatal onset growth retardation and feeding difficulties. By contrast, duplication of 20p causes facial dysmorphisms, micrognathia, cleft palate, developmental delay and vertebral anomalies. Our classification of the proband's phenotype showed a mixture of these two effects. Therefore, we suggest the routine use of genome\u2010wide SNP array towards the detailed genotype\u2010phenotype correlations for SMC syndromes. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36921","type":"journal-article","created":{"date-parts":[[2015,4,2]],"date-time":"2015-04-02T22:26:01Z","timestamp":1428013561000},"page":"1289-1293","source":"Crossref","is-referenced-by-count":5,"title":["Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy"],"prefix":"10.1002","volume":"167","author":[{"given":"Kosuke","family":"Izumi","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Nagano Children's Hospital Azumino Japan"},{"name":"Research Center for Epigenetic Disease Institute for Molecular and Cellular Biosciences The University of Tokyo Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Kubota","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Nagano Children's Hospital Azumino Japan"},{"name":"Life Science Research Center Nagano Children's Hospital Azumino Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michiko","family":"Arakawa","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Nagano Children's Hospital Azumino Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masayoshi","family":"Takayama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nagano Red Cross Hospital Nagano Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukiko","family":"Harada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Inariyama Medical Walfare Center Chikuma Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohiko","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Life Science Research Center Nagano Children's Hospital Azumino Japan"},{"name":"Division of Neonatology Nagano Children's Hospital Azumino Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eriko","family":"Nishi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Nagano Children's Hospital Azumino Japan"},{"name":"Life Science Research Center Nagano Children's Hospital Azumino Japan"},{"name":"Department of Medical Genetics Shinshu University Graduate School of Medicine Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiko","family":"Hidaka","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Nagano Children's Hospital Azumino Japan"},{"name":"Life Science Research Center Nagano Children's Hospital Azumino Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000074163"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.04.033"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36305"},{"key":"e_1_2_5_5_1","article-title":"Four new patients with maternal UP D20: A phenotype of isolated growth retardation and feeding difficulties","author":"Bhoj EJ","year":"2013","journal-title":"Paper presented at 63rd Annual Meeting of the American Society of Human Genetics, Boston, MA, 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