{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T21:15:01Z","timestamp":1791234901617,"version":"4.1.0"},"reference-count":21,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,2]]},"abstract":"<jats:p>A karyotype 46,XY,del(20)(q11 X 23q13 X 11) was found in a three year old boy with mental and growth retardation, low set ears, broad nasal bridge, and macrostomia. Adenosine deaminase (ADA) activity was reduced by about 50%, assigning the gene locus to the deleted segment. A review of the previously reported regional assignments suggests that the ADA gene is in the region of band 20q13 X 11.<\/jats:p>","DOI":"10.1136\/jmg.24.2.93","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"93-96","source":"Crossref","is-referenced-by-count":39,"title":["New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q."],"prefix":"10.1136","volume":"24","author":[{"given":"M B","family":"Petersen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Tranebjaerg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Tommerup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Nygaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Edwards","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1987,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1182\/blood.V48.5.687.687","article-title":"Specific chromosomal ahcrrations in polycythcmia vcra","volume":"48","author":"Zech, L.; Gahrton, C.; IHaglund, Killandcr D.! Franz6n S.; U.","year":"1976","unstructured":"Zech L, Gahrton C, Killandcr D! Franz6n S. IHaglund U. Specific chromosomal ahcrrations in polycythcmia vcra. Bloodi 1976;48:687-96.","journal-title":"Bloodi"},{"key":"ref_2","first-page":"216","article-title":"Brizard CP. Un nouvcau syndromc del(211)(q13-*qtcr). Localisation segmcntairc dc gcnc dc l'ad6nosinc dcaminasc (ADA). At, tn Gettet","volume":"24","author":"Fraisse, J.; Berthcas, M.F.; Frcrc, F.; Rolland, Lauras B.; M.O.","year":"1981","unstructured":"Fraisse J, Berthcas MF, Frcrc F, Lauras B. Rolland MO. Brizard CP. Un nouvcau syndromc del(211)(q13-*qtcr). Localisation segmcntairc dc gcnc dc l'ad6nosinc dcaminasc (ADA). At,tn Gettet (Paris) 1981;24:216-9.","journal-title":"(Paris)"},{"issue":"13","key":"ref_3","first-page":"160","article-title":"Ruddlc Fl Assignmcnt of adenosinc dciminasc to chromosoilmc 20. Gcnc Mapping","volume":"1974","author":"Tischficid, J.A.; Nichols, Crcagan R.P.; E.","year":"1973","unstructured":"Tischficid JA, Crcagan RP. Nichols E, Ruddlc Fl Assignmcnt of adenosinc dciminasc to chromosoilmc 20. Gcnc Mapping (1973). C'vtogenet Cell Geu1et 1974:,13:160-3.","journal-title":"C'vtogenet Cell Geu1et"},{"issue":"78","key":"ref_4","first-page":"14","article-title":"Investig.ation of the intrachromosomal position ot thc ADA locus on chr-omosomc 20 by gcnc dosagc studics. Humailn Gcnc Mapping 4","volume":"1","author":"MA, Aitkcn D.A.FcrguLson-Smith","year":"1977","unstructured":"Aitkcn DA. FcrguLson-Smith MA. Investig.ation of the intrachromosomal position ot thc ADA locus on chr-omosomc 20 by gcnc dosagc studics. Humailn Gcnc Mapping 4 (1977). C(vtogenet Cell GeoCet 1)78;22:5 14-7.","journal-title":"C(vtogenet Cell GeoCet"},{"key":"ref_5","first-page":"531","article-title":"Human adcnosinc deamiriasc and chromosomlc 2(). L rperientia","volume":"34","author":"der Wcvdcn MB. Baailc L. Garson OM, Van","year":"1978","unstructured":"Van der Wcvdcn MB. Baailc L. Garson OM. Human adcnosinc deamiriasc and chromosomlc 2(). L rperientia 1978;34:531-2."},{"issue":"30","key":"ref_6","first-page":"133","article-title":"Assignmcnt of adenosinc dcaminasc (ADA) to thc long arm of chromosomec 2(: ctogcnctic aind somatic ccil studics in an X\/201 translocation. An.1 Hioitn","volume":"1978","author":"Mohalndas, T.; Spairkcs, Milcs J.; RS, Sparkcs M.C.Passagc M.B.; Kahack, M.M.","unstructured":"Mohalndas T, Milcs J. Spairkcs RS, Sparkcs MC. P.assagc MB, Kahack MM. Assignmcnt of adenosinc dcaminasc (ADA) to thc long arm of chromosomec 2(: ctogcnctic aind somatic ccil studics in an X\/201 translocation. An.1 Hioitn Gettet 1978:30: 133A.","journal-title":"Gettet"},{"key":"ref_7","first-page":"154","article-title":"QuLanititativc stuLdics of ADA in a casc of del(2))(q(13 2--*qtcr): gene localization on the dclcted fragmcnt. Humran Gcnc Mapping 5","volume":"25","author":"Fratissc, J.; Lcnoir, Philip T.; G.","year":"1979","unstructured":"Fratissc J, Philip T. Lcnoir G. et al. QuLanititativc stuLdics of ADA in a casc of del(2))(q(13 2--*qtcr): gene localization on the dclcted fragmcnt. Humran Gcnc Mapping 5 (1979). Csvtogenet Cell Geptet 1979;25:154.","journal-title":"Csvtogenet Cell Geptet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/ajmg.1320040407","article-title":"Partial trisomy 21) confirmcd hy genc dosage studics","volume":"4","author":"E, Rudd N.L.BaIin H.W.Giblctt; SFI, Chcn; RG, Worton","year":"1979","unstructured":"Rudd NL. BaIin HW. Giblctt E, Chcn SFI, Worton RG. Partial trisomy 21) confirmcd hy genc dosage studics. Amr1 J Med Geniet 1979;4:357-64.","journal-title":"Amr1 J Med Geniet"},{"issue":"37","key":"ref_9","first-page":"542","article-title":"Sparkcs RS, Suh E.1, I lcrshficld MS. Localization of the human gcnc for S-adeniosvlhomocystcinc hydrolasc to the cen--ql3l rcgion of chromosome 21). l1uman Gence Mapping","volume":"1984","author":"Mohandas, T.","year":"1983","unstructured":"Mohandas T. Sparkcs RS, Suh E.1, I lcrshficld MS. Localization of the human gcnc for S-adeniosvlhomocystcinc hydrolasc to the cen--ql3l rcgion of chromosome 21). l1uman Gence Mapping 7 (1983). C'vtogentet Cell Ge,tet 1984:37:542.","journal-title":"C'vtogentet Cell Ge, tet"},{"key":"ref_10","first-page":"49","article-title":"Confirmattion of the rcgional localization of the gcncs for human acid ailplhaglucosidasc (GAA) and adcnosinc dcaminasc (ADA) hy somatic cell hvhridization","volume":"i","author":"Honig, J.; Martiniuk, F.; d'Eustachio, P.","year":"1984","unstructured":"Honig J, Martiniuk F, d'Eustachio P, et al. Confirmattion of the rcgional localization of the gcncs for human acid ailplhaglucosidasc (GAA) and adcnosinc dcaminasc (ADA) hy somatic cell hvhridization. A,iut Hion,i Gettet 1984;48:49-56.","journal-title":"A, iut Hion"},{"issue":"446-5","key":"ref_11","first-page":"1","article-title":"Scgrcgation of a t(3; 2(0) translocation through threc generations resulting in unhalaInccd karvotypes in six personis","volume":"23","author":"Niclscn, K.B.; Nygaard, Tommerup N.Icspcrscn B.; P, Klcif l","year":"1986","unstructured":"Niclscn KB, Tommerup N. Icspcrscn B. Nygaard P, Klcif l.. Scgrcgation of a t(3;2(0) translocation through threc generations resulting in unhalaInccd karvotypes in six personis. J Med Getiet 1986;23:446-5 1.","journal-title":"J Med Getiet"},{"key":"ref_12","first-page":"127","article-title":"Rcport of the committcc on the gcnctic constitution of chromosomes 13, 14","volume":"7","author":"C, vtogenet Cell Gen1et","year":"1983","unstructured":"Fcrguson-Smith MA, Cox DR. Rcport of the committcc on the gcnctic constitution of chromosomes 13, 14. 15, 16 and 17. Human Gcnc Malpping 7 (1983). C,vtogenet Cell Gen1et 1984;37:127-54.","journal-title":"Human Gcnc Malpping"},{"key":"ref_13","first-page":"271","article-title":"Chromosomes in the Cornelia dc Lanlgce syndromc","volume":"59","author":"M, Bcck B.Mikkclscn","year":"1981","unstructured":"Bcck B. Mikkclscn M. Chromosomes in the Cornelia dc Lanlgce syndromc. Hi-hn Ge,tet 1981;59:271-6.","journal-title":"Hi-hn Ge, tet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/j.0954-6820.1984.tb04963.x","article-title":"Purinc mctaholizing cnzymcs in lymphocytes from paticnts with solid tuLmors","volume":"215","author":"Mejer, J.; orhov S, I.; Nvgaard, P.","year":"1984","unstructured":"Mejer J, I orhov S, Nvgaard P. Purinc mctaholizing cnzymcs in lymphocytes from paticnts with solid tuLmors. Acta Med Scancl 1984;215:5-1 1.","journal-title":"Acta Med Scancl"},{"issue":"1","key":"ref_15","article-title":"Catalogue of untalantced chlroomosote alie-rration.s itatbait. Bcrlin, Ncw York: dc Gruvtcr, 1984: 674-8(1. Ahmcd M. Long-arm delction of 19\/20) chromosomes","volume":"45","author":"Schinzel, A.","year":"1972","unstructured":"Schinzel A. Catalogue of untalantced chlroomosote alie-rration.s itatbait. Bcrlin, Ncw York: dc Gruvtcr, 1984:674-8(1. Ahmcd M. Long-arm delction of 19\/20) chromosomes. Lancet 1972;i:45 1.","journal-title":"Lancet"},{"key":"ref_16","first-page":"2","article-title":"Report of a casc of 46, XX\/45, XX,-2() mosaiicism","volume":"18","author":"Olinici, C.D.","year":"1975","unstructured":"Olinici CD. Report of a casc of 46,XX\/45,XX,-2() mosaiicism. Aiiti Gettet (Paris) 1975;18:2)6-8.","journal-title":"Aiiti Gettet (Paris)"},{"key":"ref_17","first-page":"9","article-title":"Adcnosine deaminasc polymorphism in man","volume":"i","author":"H, Spcnccr N.Hiopkinson D.A.Halrris","unstructured":"Spcnccr N. Hiopkinson DA. Halrris H. Adcnosine deaminasc polymorphism in man. Atitn Hit,,i Getiet 1968;32:9-14.","journal-title":"Atitn Hit"},{"issue":"167-9","key":"ref_18","first-page":"2","article-title":"Adcnosinc-dcaminasc dcficicncy in two paticnts with sevcrcly impaired ccllular immunity","volume":"1","author":"Giblett, E.R.; IE, Andcrson; Cohen, F.; Pollara, B.; Mcuwisscn, H.J.","year":"1972","unstructured":"Giblett ER, Andcrson.IE, Cohen F, Pollara B, Mcuwisscn HJ. Adcnosinc-dcaminasc dcficicncy in two paticnts with sevcrcly impaired ccllular immunity. Lancet 1972;ii: 1(167-9. 2(1 Scott CR. Chen SII. Giblctt ER. Dctcction of the carricr state in combined immunodeficiency disease associatcd with adcnosinc dcaminasc dcficicncy. J Clin Inve.st 1974;53:1194-6.","journal-title":"Lancet; Dctcction of the carricr state in combined immunodeficiency disease associatcd with adcnosinc dcaminasc dcficicncy"},{"key":"ref_19","first-page":"245","article-title":"Abnormalitics of chromosomcs 11 and 2(0. In: Yunis JJ, cd. New clirocinosotnatl srtdromes. Ncw York. San Francisco","author":"Franckc, U.","year":"1977","unstructured":"Franckc U. Abnormalitics of chromosomcs 11 and 2(0. In: Yunis JJ, cd. New clirocinosotnatl srtdromes. Ncw York. San Francisco. London: Acadcmic Prcss, 1977:245-72."},{"issue":"31","key":"ref_20","first-page":"17","article-title":"An intcrnational system for human cytogcnctic nomcnclaturc-high rcsolution banding","volume":"1981","author":"I.S.C.N.","unstructured":"ISCN. An intcrnational system for human cytogcnctic nomcnclaturc-high rcsolution banding. Cs-togeinet Cell Getiet 1981:31:17.","journal-title":"Cs-togeinet Cell Getiet"},{"key":"ref_21","first-page":"268","article-title":"Rcport of the committec on the genetic constitution of chromosomes 21)","volume":"8","author":"Tippett, P.; Kaplan, J.C.","year":"1985","unstructured":"Tippett P, Kaplan JC. Rcport of the committec on the genetic constitution of chromosomes 21), 21, and 22, lluman Genc Mapping 8 (1985). Cstogeiet Cell Gettet 1985:40:268--95.","journal-title":"21, and 22, lluman Genc Mapping; Cstogeiet Cell Gettet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.2.93","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:51:19Z","timestamp":1760723479000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.2.93"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,2]]},"references-count":21,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1987,2,1]]},"published-print":{"date-parts":[[1987,2]]}},"alternative-id":["10.1136\/jmg.24.2.93"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.2.93","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,2]]}}}