{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:35Z","timestamp":1761717935604},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1980,8,1]],"date-time":"1980-08-01T00:00:00Z","timestamp":333936000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1980,8]]},"DOI":"10.1007\/bf00291777","type":"journal-article","created":{"date-parts":[[2004,10,5]],"date-time":"2004-10-05T13:57:30Z","timestamp":1096984650000},"page":"271-273","source":"Crossref","is-referenced-by-count":34,"title":["A girl with the Prader-Willi Syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members"],"prefix":"10.1007","volume":"55","author":[{"given":"Arabella","family":"Smith","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Noel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000130130","volume":"10","author":"FE Arrighi","year":"1971","unstructured":"Arrighi FE, Hsu TC (1971) Localisation of heterochromatin in human chromosomes. Cytogenet Cell Genet 10:81?86","journal-title":"Cytogenet Cell Genet"},{"key":"CR2","first-page":"616","volume":"77","author":"RE Carrel","year":"1973","unstructured":"Carrel RE, Sparkes RS, Wright SW (1973). Chromosome survey of moderately to profoundly retarded patients. Am J Ment Defic 77:616?622","journal-title":"Am J Ment Defic"},{"key":"CR3","first-page":"87","volume":"14","author":"MM Cohen","year":"1971","unstructured":"Cohen MM (1971) The chromosomal constitution of 165 human translocations involving D group chromosomes identified by auto-radiography. Ann Genet (Paris) 14:87?96","journal-title":"Ann Genet (Paris)"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/BF00281887","volume":"33","author":"CT Doyle","year":"1976","unstructured":"Doyle CT (1976) The cytogenetics of 90 patients with idiopathic mental retardation malformation syndromes and of 90 normal subjects. Hum Genet 33:131?146","journal-title":"Hum Genet"},{"key":"CR5","first-page":"297","volume":"20","author":"JM Emberger","year":"1977","unstructured":"Emberger JM, Rodiere M, Astruc J, Brunel D (1977) Syndrome de Prader-Willi et translocation 15?15. Ann Genet (Paris) 20:297?300","journal-title":"Ann Genet (Paris)"},{"key":"CR6","first-page":"297","volume":"26","author":"B Erdimann","year":"1975","unstructured":"Erdimann B, Salzano FM, Mattevi MS (1975) Chromosome studies in patients with congenital malformations and mental retardation. Hum Genet 26:297?306","journal-title":"Hum Genet"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1111\/j.1399-0004.1979.tb00990.x","volume":"16","author":"MJW Faed","year":"1979","unstructured":"Faed MJW, Robertson J, Field AS, Mellon JP (1979) A chromosome survey of a hospital for the mentally subnormal. Clin Genet 16:191?204","journal-title":"Clin Genet"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1136\/jmg.14.4.275","volume":"14","author":"M Fraccaro","year":"1977","unstructured":"Fraccaro M, Zuffardi O B\u00fchler EM, Jurk L (1977) 15\/15 translocation in Prader-Willi Syndrome. J Med Genet 14: 275?278","journal-title":"J Med Genet"},{"key":"CR9","volume-title":"Klinische Genetik in der P\u00e4diatrie","author":"M Fraccaro","year":"1979","unstructured":"Fraccaro M, Zuffardi O, B\u00fchler E (1979) Deficiencies involving the paracentromeric regions of chromosome 15: Prader-Willi or a new syndrome? In: Tolksdorf M, Spranger J (eds) Klinische Genetik in der P\u00e4diatrie. Georg Thieme, Stuttgart"},{"key":"CR10","first-page":"136","volume":"29","author":"JS Funderburk","year":"1977","unstructured":"Funderburk JS, Spence MA, Sparkes RS (1977) Mental retardation associated with ?balanced? chromosome rearrangements. Am J Hum Genet 29:136?141","journal-title":"Am J Hum Genet"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1111\/j.1399-0004.1975.tb01498.x","volume":"8","author":"JL Hamerton","year":"1975","unstructured":"Hamerton JL, Canning N, Ray M, Smith S (1975) A cytogenetic survey of 14,069 newborn infants. 1. Incidence of chromosome abnormalities. Clin Genet 8:223?243","journal-title":"Clin Genet"},{"key":"CR12","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1136\/jmg.13.2.152","volume":"13","author":"CJ Hawkey","year":"1976","unstructured":"Hawkey CJ, Smithies A (1976) The Prader-Willi Syndrome with a 15\/15 translocation. J Med Genet 13:152?163","journal-title":"J Med Genet"},{"key":"CR13","first-page":"361","volume":"23","author":"F Hecht","year":"1971","unstructured":"Hecht F, Kimberling WJ (1971) Patterns of D chromosome involvement in human (DqDq) and (DqGq). Robertsonian rearrangements. Am J Hum Genet 23:361?367","journal-title":"Am J Hum Genet"},{"key":"CR14","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1111\/j.1469-1809.1957.tb01403.x","volume":"35","author":"PA Jacobs","year":"1972","unstructured":"Jacobs PA, Frankiewicz A, Law P (1972) Incidence and mutation rates of structural rearrangements of the autosomes in man. Ann Hum Genet 35:301?319","journal-title":"Ann Hum Genet"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1136\/jmg.11.1.65","volume":"11","author":"PA Jacobs","year":"1974","unstructured":"Jacobs PA, Buckton KE, Christie S, Newton M, Mathew D (1974) A family with two translocations and a polymorphism involving chromosome 14. J Med Genet 11:65?68","journal-title":"J Med Genet"},{"issue":"No 6C","key":"CR16","first-page":"303","volume":"XIV","author":"PL Monteleone","year":"1978","unstructured":"Monteleone PL, Volk LR, Sekhon GS, Grzegocki J, Tietjens M, Monteleone JA, Sekhon HR (1978) (14q15q). Translocation in several members of a family. Birth Defects: Orig Art Ser, Vol XIV, No 6C. The National Foundation, p 303?308","journal-title":"Birth Defects: Orig Art Ser"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","volume":"20","author":"PS Moorhead","year":"1960","unstructured":"Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA (1960) Chromosome preparation of leucocytes cultured from human peripheral blood Exp Cell Res 20: 613?616","journal-title":"Exp Cell Res"},{"key":"CR18","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1111\/j.1399-0004.1972.tb04271.x","volume":"3","author":"MS Newton","year":"1972","unstructured":"Newton MS, Cunningham C, Jacobs PA, Price WH, Fraser IA (1972) Chromosome survey of a hospital for the mentally subnormal. Part 2: Autosome abnormalities. Clin Genet 3: 226?248","journal-title":"Clin Genet"},{"key":"CR19","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","volume":"II","author":"M Seabright","year":"1971","unstructured":"Seabright M (1971) A rapid banding technique for human chromosomes. Lancet II: 971?972","journal-title":"Lancet"},{"key":"CR20","first-page":"293","volume":"18","author":"DN Singh","year":"1974","unstructured":"Singh DN, Osborne RA, Paul JR, Catoe S, Katzberg G, Hennigar GR, Barnett CD (1974) Cytogenetic survey of 504 mentally retarded individuals. J Ment Defic Res 18:293?305","journal-title":"J Ment Defic Res"},{"key":"CR21","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1136\/jmg.13.4.295","volume":"13","author":"RM Speed","year":"1976","unstructured":"Speed RM, Johnston AW, Evans HJ (1976) Chromosome survey of total population of mentally subnormal in North-East of Scotland. J Med Genet 13:295?306","journal-title":"J Med Genet"},{"key":"CR22","first-page":"548","volume":"32","author":"MA Stenchever","year":"1968","unstructured":"Stenchever MA, Jarvis JA, Macintyre MN (1968) Cytogenetics of habitual abortion. Obstet Gynecol 32:548?555","journal-title":"Obstet Gynecol"},{"key":"CR23","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/BF00295286","volume":"34","author":"GR Sutherland","year":"1976","unstructured":"Sutherland GR, Murch AR, Gardiner AJ, Carter RF, Wiseman C (1976) Cytogenetic survey of a hospital for the mentally retarded. Hum Genet 34:231?245","journal-title":"Hum Genet"},{"key":"CR24","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1136\/jmg.10.4.356","volume":"10","author":"E Zeuthen","year":"1973","unstructured":"Zeuthen E, Nielsen J (1973) D\/D translocation in males examined for military service. J Med Genet 10:356?361","journal-title":"J Med Genet"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00291777.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00291777\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00291777","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T21:16:12Z","timestamp":1554758172000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00291777"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,8]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1980,8]]}},"alternative-id":["BF00291777"],"URL":"https:\/\/doi.org\/10.1007\/bf00291777","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,8]]}}}