{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T06:11:53Z","timestamp":1694758313058},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,1,19]],"date-time":"2017-01-19T00:00:00Z","timestamp":1484784000000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Partial monosomy of 10p is a rare chromosomal abnormality. Common features are hypoparathyroidism, deafness, renal anomalies, distinctive facies, and mental retardation, with phenotypic variability. We report two patients with chromosomal abnormalities identified on single\u2010nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>) array analysis. Although patient 1 had common features of monosomy10p, G\u2010banding indicated a normal karyotype. <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> array and fluorescence <jats:italic>in\u00a0situ<\/jats:italic> hybridization (<jats:styled-content style=\"fixed-case\">FISH<\/jats:styled-content>), however, indicated unbalanced translocation of a 10p terminal deletion of 11.7\u00a0Mb and a 15q terminal duplication of 8.2\u00a0Mb. In patient 2, <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> array and <jats:styled-content style=\"fixed-case\">FISH<\/jats:styled-content> indicated a 10p terminal deletion of 12.6\u00a0Mb and a 7q terminal duplication of 1.9\u00a0Mb. This is the first case report of monosomy 10p combined with trisomy 15q (patient 1). Because the clinical heterogeneity of the 10p deletion syndrome would be affected by duplication of another chromosome, we emphasize that <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\/microarray analysis is necessary to confirm genotype\u2013phenotype correlation.<\/jats:p>","DOI":"10.1111\/ped.13181","type":"journal-article","created":{"date-parts":[[2017,1,19]],"date-time":"2017-01-19T18:48:31Z","timestamp":1484851711000},"page":"99-102","source":"Crossref","is-referenced-by-count":1,"title":["Partial monosomy of 10p and duplication of another chromosome in two patients"],"prefix":"10.1111","volume":"59","author":[{"given":"Sayaka","family":"Ohta","sequence":"first","affiliation":[{"name":"Department of Pediatrics Graduate School of Medicine University of Tokyo Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsuyoshi","family":"Isojima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medicine University of Tokyo Tokyo Japan"},{"name":"Department of Pediatrics Teikyo University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Mizuno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medicine University of Tokyo Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motohiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medicine University of Tokyo Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masakazu","family":"Mimaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medicine University of Tokyo Tokyo Japan"},{"name":"Department of Pediatrics Teikyo University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masafumi","family":"Seki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medicine University of Tokyo Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seishi","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junko","family":"Takita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medicine University of Tokyo Tokyo 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