{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:35:01Z","timestamp":1762508101807,"version":"3.41.2"},"reference-count":10,"publisher":"The Endocrine Society","issue":"5","license":[{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Chromosome 6q24-related transient neonatal diabetes mellitus is characterized by intrauterine growth restriction and low birth weight, with neonatal hyperglycemia resolving by 18 months and an increased risk for type 2 diabetes in adulthood. Molecularly, it is caused by overexpression of the 6q24 imprinted chromosomal region due to a duplication, uniparental disomy, or abnormal methylation. Conventional testing for this condition analyzes methylation patterns at the 6q24 locus but does not evaluate for the presence of other surrounding chromosomal abnormalities. We report a female with a history of neonatal hyperglycemia due to a paternally inherited duplication at chromosomal location 6q24. She subsequently presented to the pediatric genetics clinic at 15 months of age with developmental delay and abnormal balance. Microarray analysis identified a larger 14 Mb chromosomal duplication from 6q24 to 6q25.2, consistent with a diagnosis of duplication 6q syndrome. This case highlights the clinical importance of pursuing further genetic evaluation in patients diagnosed with chromosome 6q24-related neonatal hyperglycemia via targeted methylation-specific multiplex ligation-dependent probe amplification analysis identifying a duplication in this region. Early identification and intervention can improve developmental outcomes for patients with larger chromosome 6q duplications.<\/jats:p>","DOI":"10.1210\/jendso\/bvaa027","type":"journal-article","created":{"date-parts":[[2020,4,27]],"date-time":"2020-04-27T20:15:51Z","timestamp":1588018551000},"source":"Crossref","is-referenced-by-count":8,"title":["Duplication 6q24: More Than Just Diabetes"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8253-5441","authenticated-orcid":false,"given":"Rachel H","family":"Gore","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Eleni","family":"Nikita","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula G","family":"Newton","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca G","family":"Carter","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanine","family":"Reyes-Bautista","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol L","family":"Greene","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2020,4,27]]},"reference":[{"issue":"12","key":"2020052310294416300_CIT0001","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1136\/jmg.39.12.872","article-title":"Transient neonatal diabetes, a disorder of imprinting","volume":"39","author":"Temple","year":"2002","journal-title":"J Med Genet."},{"key":"2020052310294416300_CIT0002","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1007\/s00125-013-2832-1","article-title":"6q24 transient neonatal diabetes mellitus (6q24 TNDM) \u2013 clinical presentation and genotype phenotype correlation in an international cohort of cases","volume":"56","author":"Docherty","year":"2013","journal-title":"Diabetologia"},{"issue":"1","key":"2020052310294416300_CIT0003","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1007\/s00125-012-2766-z","article-title":"Hypoglycaemia following diabetes remission in patients with 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cons","volume":"99","author":"Carmody","year":"2014","journal-title":"J Clin Endocrinol Metab."},{"issue":"7","key":"2020052310294416300_CIT0007","doi-asserted-by":"crossref","first-page":"1781","DOI":"10.1002\/ajmg.a.33433","article-title":"Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis","volume":"152A","author":"Tabet","year":"2010","journal-title":"Am J Med Genet A."},{"issue":"4","key":"2020052310294416300_CIT0008","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<450::AID-AJMG15>3.0.CO;2-R","article-title":"Mild \u201cduplication 6q syndrome\u201d: a case with partial trisomy (6)(q23.3q25.3)","volume":"68","author":"Henegariu","year":"1997","journal-title":"Am J Med Genet."},{"issue":"4","key":"2020052310294416300_CIT0009","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.ejmg.2008.01.005","article-title":"A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome","volume":"51","author":"Zweier","year":"2008","journal-title":"Eur J Med Genet."},{"issue":"9997","key":"2020052310294416300_CIT0010","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1016\/S0140-6736(15)60098-8","article-title":"The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study","volume":"386","author":"De Franco","year":"2015","journal-title":"Lancet."}],"container-title":["Journal of the Endocrine 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