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Parental studies using FISH are crucial for genetic counselling in cases of Miller\u2010Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, prenatal diagnosis using FISH is feasible. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590409","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:13:43Z","timestamp":1118513623000},"page":"441-443","source":"Crossref","is-referenced-by-count":16,"title":["Miller\u2010Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3)"],"prefix":"10.1002","volume":"59","author":[{"given":"Mitsuo","family":"Masuno","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoshi","family":"Imaizumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mihoko","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoshi","family":"Matsui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiko","family":"Goto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshikazu","family":"Kuroki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1993.02160360033012"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80183-8"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180320"},{"key":"e_1_2_1_5_1","first-page":"584","article-title":"Clinical and molecular diagnosis of Miller\u2010Dieker syndrome","volume":"48","author":"Dobyns WB","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/370216a0"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.9.712"},{"key":"e_1_2_1_8_1","first-page":"707","article-title":"Detection of deletions and cryptic translocations in Miller\u2010Dieker syndrome by in situ hybridization","volume":"49","author":"Kuwano A","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)92995-4"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1144"},{"key":"e_1_2_1_11_1","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1992"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1542\/peds.56.5.756","article-title":"Familial partial trisomy of the long arm of chromosome 10 (q24\u2013q26)","volume":"56","author":"Moreno\u2010Fuenmayor H","year":"1975","journal-title":"Pediatrics"},{"key":"e_1_2_1_13_1","first-page":"296","article-title":"Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5","volume":"45","author":"Overhauser J","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/364717a0"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01929213"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00204942"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320590409","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320590409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T21:59:38Z","timestamp":1698357578000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320590409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,12,4]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1995,12,4]]}},"alternative-id":["10.1002\/ajmg.1320590409"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320590409","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,12,4]]}}}