{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:04:36Z","timestamp":1761717876473,"version":"build-2065373602"},"reference-count":40,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,10,1]]},"DOI":"10.1136\/jmg.37.10.e30","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:33:18Z","timestamp":1027751598000},"page":"e30-e30","source":"Crossref","is-referenced-by-count":11,"title":["Partial tetrasomy 21 in a male infant"],"prefix":"10.1136","volume":"37","author":[{"given":"ANNE M","family":"SLAVOTINEK","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"XIAO-NING","family":"CHEN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ANN","family":"JACKSON","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LORRAINE","family":"GAUNT","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ALASTAIR","family":"CAMPBELL","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JILL","family":"CLAYTON-SMITH","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JULIE R","family":"KORENBERG","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2000,10,1]]},"reference":[{"key":"2025100521511378000_37.10.e30.1","unstructured":"Lehrach H Drmavac R Hoheisel J Larin Z Lennon G Monaco AP Nizetic D Zehetner G Poustka A (1990) Hybridization fingerprinting in genome mapping and sequencing. in Genome analysis. Volume 1. Genetics and physical mapping. eds Davies KE Tilghman SM (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY), pp 39\u201381."},{"key":"2025100521511378000_37.10.e30.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.9.679"},{"key":"2025100521511378000_37.10.e30.3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.18.8794"},{"key":"2025100521511378000_37.10.e30.4","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1006\/geno.1996.0268","article-title":"Construction and characterization of a human bacterial artificial chromosome library.","volume":"2","author":"Kim","year":"1996","journal-title":"Genomics"},{"key":"2025100521511378000_37.10.e30.5","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5.5.427"},{"key":"2025100521511378000_37.10.e30.6","doi-asserted-by":"publisher","DOI":"10.1101\/gr.9.10.994"},{"key":"2025100521511378000_37.10.e30.7","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1111\/j.1399-0004.1976.tb01601.x","article-title":"Clinical diagnosis of Down's syndrome.","volume":"9","author":"Jackson","year":"1976","journal-title":"Clin Genet"},{"key":"2025100521511378000_37.10.e30.8","unstructured":"Schinzel A (1993) Karyotype-phenotype correlations in autosomal chromosomal aberrations. The phenotypic mapping of Down syndrome and other aneuploid conditions. (Wiley Liss, New York), pp 19\u201331."},{"key":"2025100521511378000_37.10.e30.9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420614"},{"key":"2025100521511378000_37.10.e30.10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530411"},{"key":"2025100521511378000_37.10.e30.11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120112"},{"key":"2025100521511378000_37.10.e30.12","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550309.x"},{"key":"2025100521511378000_37.10.e30.13","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550414.x"},{"key":"2025100521511378000_37.10.e30.14","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442089"},{"key":"2025100521511378000_37.10.e30.15","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1111\/j.1399-0004.1982.tb00755.x","article-title":"Mosaic tetrasomy 21 in a liveborn male infant.","volume":"21","author":"Hunter","year":"1982","journal-title":"Clin Genet"},{"key":"2025100521511378000_37.10.e30.16","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1111\/j.1399-0004.1984.tb00805.x","article-title":"Mosaic tetrasomy 21 in a male child.","volume":"26","author":"Kwee","year":"1984","journal-title":"Clin Genet"},{"key":"2025100521511378000_37.10.e30.17","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/pd.1970050312","article-title":"Prenatal diagnosis of tetrasomy 21.","volume":"5","author":"Lopes","year":"1985","journal-title":"Prenat Diagn"},{"key":"2025100521511378000_37.10.e30.18","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1111\/j.1399-0004.1997.tb02466.x","article-title":"Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence in situ hydridization.","volume":"51","author":"Nagarsheth","year":"1997","journal-title":"Clin Genet"},{"key":"2025100521511378000_37.10.e30.19","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1111\/j.1399-0004.1985.tb01217.x","article-title":"The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome.","volume":"28","author":"Hunter","year":"1985","journal-title":"Clin Genet"},{"key":"2025100521511378000_37.10.e30.20","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1111\/j.1399-0004.1985.tb00222.x","article-title":"Mosiac tetrasomy 21 is mosaic tetrasomy 12p some of the time.","volume":"27","author":"Hall","year":"1985","journal-title":"Clin Genet"},{"key":"2025100521511378000_37.10.e30.21","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1002\/pd.1970121203","article-title":"Prenatal diagnosis of Pallister-Killian syndrome: resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization.","volume":"12","author":"McLean","year":"1992","journal-title":"Prenat Diagn"},{"key":"2025100521511378000_37.10.e30.22","first-page":"A63","article-title":"Proximal 14q tetrasomy syndrome.","volume":"43","author":"Nuessle","year":"1988","journal-title":"Am J Hum Genet"},{"key":"2025100521511378000_37.10.e30.23","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1093\/oxfordjournals.bmb.a011559","article-title":"The genetics of mental retardation.","volume":"52","author":"Flint","year":"1996","journal-title":"Br Med Bull"},{"key":"2025100521511378000_37.10.e30.24","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1002\/j.1460-2075.1994.tb06371.x","article-title":"Stch encodes the \u2018ATPase core\u2019 of a microsomal stress 70 protein.","volume":"13","author":"Otterson","year":"1994","journal-title":"EMBO J"},{"key":"2025100521511378000_37.10.e30.25","doi-asserted-by":"crossref","first-page":"3741","DOI":"10.1002\/j.1460-2075.1995.tb00044.x","article-title":"Nuclear factor RIP140 modulates transcriptional activation by the estrogen receptor.","volume":"14","author":"Cavailles","year":"1995","journal-title":"EMBO J"},{"key":"2025100521511378000_37.10.e30.26","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1111\/j.1399-0004.1973.tb01149.x","article-title":"Partial trisomy 21.","volume":"4","author":"Aula","year":"1973","journal-title":"Clin Genet"},{"key":"2025100521511378000_37.10.e30.27","doi-asserted-by":"publisher","DOI":"10.1007\/BF01790097"},{"key":"2025100521511378000_37.10.e30.28","first-page":"207","article-title":"Protocols to establish genotype-phenotype correlations in Down syndrome.","volume":"49","author":"Epstein","year":"1991","journal-title":"Am J Hum Genet"},{"key":"2025100521511378000_37.10.e30.29","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370720"},{"key":"2025100521511378000_37.10.e30.30","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070203"},{"key":"2025100521511378000_37.10.e30.31","first-page":"294","article-title":"Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.","volume":"50","author":"Korenberg","year":"1992","journal-title":"Am J Hum Genet"},{"key":"2025100521511378000_37.10.e30.32","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1159\/000472398","article-title":"Molecular mapping of twenty-four features of Down syndrome on chromosome 21.","volume":"1","author":"Delabar","year":"1993","journal-title":"Eur J Hum Genet"},{"key":"2025100521511378000_37.10.e30.33","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.11.4997"},{"key":"2025100521511378000_37.10.e30.34","first-page":"38","article-title":"Reflections on the pathogenesis of Down syndrome.","volume":"7","author":"Opitz","year":"1990","journal-title":"Am J Med Genet Suppl"},{"key":"2025100521511378000_37.10.e30.35","first-page":"247","article-title":"Hematologic disorders in 13 patients with acquired trisomy 21 and 13 individuals with Down syndrome.","volume":"7","author":"Dewald","year":"1990","journal-title":"Am J Med Genet Suppl"},{"key":"2025100521511378000_37.10.e30.36","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(94)90032-9"},{"key":"2025100521511378000_37.10.e30.37","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(95)00114-X"},{"key":"2025100521511378000_37.10.e30.38","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070304"},{"key":"2025100521511378000_37.10.e30.39","unstructured":"Gardner RJM Sutherland GR (1996) Chromosome abnormalities and genetic counselling. (Oxford University Press, Oxford), 2nd ed. p 265."},{"key":"2025100521511378000_37.10.e30.40","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/j.1399-0004.1996.tb02344.x","article-title":"Parental origin and mechanisms of formation of three cases of 12p tetrasomy.","volume":"50","author":"Turleau","year":"1996","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.37.10.e30","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:51:28Z","timestamp":1759726288000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.37.10.e30"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,10,1]]},"references-count":40,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2000,10,1]]},"published-print":{"date-parts":[[2000,10,1]]}},"alternative-id":["10.1136\/jmg.37.10.e30"],"URL":"https:\/\/doi.org\/10.1136\/jmg.37.10.e30","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[2000,10,1]]}}}