{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:23:26Z","timestamp":1791293006623,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":10014,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1978,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In the KOP translocation, t(X;14) (q13; q32), virtually the entire long arm of the X has been translocated to the end of the long arm of chromosome 14. Meiotic secondary nondisjunction in a female balanced carrier of the translocation has led to a son with two der(14) or 14\u2010X chromosomes. The normal X chromosome is late replicating in the mother. One of the two 14\u2010X Chromosomes is late replicating in the son, with heavy terminal labeling of all but the centromeric end of the chromosome. This suggests that genetic inactivation has spread from the Xq segment of the translocation chromosome to at least two thirds of the segment derived from chromosome 14, and that the remaining proximal segment of chromosome 14 is possibly still genetically active. These findings provide an explanation for the phenotype: Klinefelter syndrome plus a few mild malformations that are sometimes seen in this syndrome but are also seen in duplication of the proximal portion of chromosome 14. Although the proband has a duplication of virtually an entire chromosome 14, 14(pter\u2192q32), the phenotypic effect of the autosomal duplication has been mostly nullified by the spread of inactivation.<\/jats:p>","DOI":"10.1002\/ajmg.1320020304","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:29:44Z","timestamp":1118510984000},"page":"233-240","source":"Crossref","is-referenced-by-count":34,"title":["Spreading of inactivation in an (X;14) translocation"],"prefix":"10.1002","volume":"2","author":[{"given":"Penelope W.","family":"Allderdice","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orlando J.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothy A.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harold P.","family":"Klinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"14","article-title":"Demonstration of a spreading effect in an X\u2010autosome translocation by combined autoradiographic and quinacrine\u2010fluorescence studies","volume":"233","author":"Allderdice PW","year":"1971","journal-title":"Excerpta Med Int Congr Ser"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00326943"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1956.tb01390.x"},{"key":"e_1_2_1_5_1","first-page":"583","article-title":"Two human X\u2010autosome translocations identified by autoradiography and fluorescence","volume":"24","author":"Cohen MM","year":"1972","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","first-page":"385","article-title":"Trisomy 13 with a 13\u2010X translocation","volume":"26","author":"Crandall BF","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","first-page":"586","article-title":"Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families","volume":"19","author":"DeCapoa A","year":"1967","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-2660(08)60074-7"},{"key":"e_1_2_1_9_1","volume-title":"New Chromosomal and Malformation Syndromes (1974 Birth Defects Conference)","author":"Fawcett WA","year":"1975"},{"issue":"5","key":"e_1_2_1_9_2","first-page":"223","journal-title":"BD:OAS"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1093\/oxfordjournals.jhered.a108794","article-title":"A 5\/X chromosomal translocation in a patient with premature menopause","volume":"68","author":"Garcia JE","year":"1977","journal-title":"J Hered"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.69.1.69"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130577"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130780"},{"key":"e_1_2_1_14_1","first-page":"736","article-title":"A familial X\u201022 translocation with an extra X chromosome","volume":"26","author":"Jenkins MB","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00292912"},{"key":"e_1_2_1_16_1","first-page":"441","article-title":"Human X\u2010autosome translocations: differential inactivation of the X chromosome in a kindred with an X\u20109 translocation","volume":"27","author":"Leisti JT","year":"1975","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.850784"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130474"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130464"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130465"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/newbio241180a0"},{"key":"e_1_2_1_22_1","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1093\/genetics\/74.4.661","article-title":"Assignment of three gene loci (PGK, HGPRT, G6PD) to the long arm of the human X chromosome by somatic cell genetics","volume":"74","author":"Ricciuti FC","year":"1973","journal-title":"Genetics"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.3.367"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80674-8"},{"key":"e_1_2_1_25_1","first-page":"410","article-title":"Multiple abnormalities due to possible genetic inactivation in an X\/autosome translocation","volume":"23","author":"Thelen TH","year":"1971","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_26_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00281002","article-title":"Abnormal X chromosomes in man: origin, behavior and effects","volume":"25","author":"Therman E","year":"1974","journal-title":"Humangenetik"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320020304","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320020304","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T23:07:49Z","timestamp":1699830469000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320020304"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,1]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1978,1]]}},"alternative-id":["10.1002\/ajmg.1320020304"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320020304","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,1]]}}}