{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T15:24:29Z","timestamp":1767713069339},"reference-count":36,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4648,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a female patient with bilateral acoustic neurinomas and other tumors in the central nervous system (neurofibromatosis type 2: NF2) and the constitutional translocation, t(4;22) (q12;q12.2). The precise identification of the translocation breakpoint (q12.2) on chromosome 22 implies the refined localization of a gene responsible for NF2, and would provide a clue to its molecular characterization and to the isolation of the gene. Chromosomes of a paraspinal neurinoma from the patient were also analyzed, and the same karyotype as seen in cultured peripheral lymphocytes was found. The patient's father was also a carrier of the translocation, but he had no clinical symptoms of NF2, nor did other relatives. Several explanations are offered for the different expression of the translocation between the patient and her father. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440209","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:21:30Z","timestamp":1118506890000},"page":"163-167","source":"Crossref","is-referenced-by-count":10,"title":["Constitutional translocation t(4;22) (q12;q12.2) associated with neurofibromatosis type 2"],"prefix":"10.1002","volume":"44","author":[{"given":"Eiko","family":"Arai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuro","family":"Ikeuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Karasawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Tamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kohtaro","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsushiro","family":"Kida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koichi","family":"Ichimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhito","family":"Yuasa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Tonomura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.49.4.362"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.9.582"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(87)90269-X"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(90)90066-J"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.24.9275"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(89)90240-9"},{"key":"e_1_2_1_8_1","first-page":"1","article-title":"Update to the Tenth International Workshop on Human Gene Mapping","volume":"55","author":"HGM","year":"1990","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132030"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.30.8.851"},{"key":"e_1_2_1_11_1","first-page":"330","article-title":"Loss of heterozygosity in three embryonal tumors suggests a common pathogenetic mechanism","volume":"316","author":"Koufos A","year":"1985","journal-title":"Science"},{"key":"e_1_2_1_12_1","first-page":"783","article-title":"A t(4;22) in a meningioma points to the localization of a putative tumor\u2010suppressor gene","volume":"48","author":"Deprez RH Lekanne","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1227\/00006123-198201000-00001"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03596.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6320372"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/342281a0"},{"key":"e_1_2_1_17_1","first-page":"15","article-title":"Loss of genes on the long arm of chromosome 22 in human meningiomas","volume":"5","author":"Okazaki M","year":"1988","journal-title":"Mol Biol Med"},{"key":"e_1_2_1_18_1","first-page":"109","article-title":"Cytogentic studies of 19 meningiomas and their clinical significance. 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