{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T18:03:34Z","timestamp":1700157814121},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4450,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fluorescent in situ hybridization (FISH) identified a cryptic balanced reciprocal translocation in the mother of an infant with the cri\u2010du\u2010chat syndrome. A biotinylated probe from a flow\u2010sorted chromosome 5 cosmid library was used to show the distal deletion of 5p15.2 in the propositus and a translocation of this segment to the distal end of 7 at 7p21 in his mother. In a subsequent pregnancy, the fetus was shown to have normal chromosomes using the same 5 cosmid library probe and a locus\u2010specific probe derived from the 5p15.3 region. The importance of incorporating FISH into the routine diagnostic laboratory is discussed. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460113","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:56:24Z","timestamp":1118537784000},"page":"77-82","source":"Crossref","is-referenced-by-count":8,"title":["Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization"],"prefix":"10.1002","volume":"46","author":[{"given":"Renee","family":"Bernstein","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maureen E.","family":"Bocian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary J.","family":"Cain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulla","family":"Bengtsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John J.","family":"Wasmuth","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","first-page":"1235","article-title":"Molecular confirmation of Wolf\u2010Hirschhorn syndrome with a subtle translocation of chromosome 4","volume":"49","author":"Altherr MR","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","first-page":"449","article-title":"Prenatal diagnosis of minute 5p\u2010deletion: A cytogenetic problem in detection","volume":"70","author":"Benn PA","year":"1987","journal-title":"Obset Gynecol"},{"key":"e_1_2_1_4_1","first-page":"28A","article-title":"Prenatal diagnosis of an apparently balanced (6;17) translocation with a submicroscopic deletion in the Miller\u2010Dieker region","volume":"40","author":"Bocian M","year":"1992","journal-title":"Clin Res"},{"key":"e_1_2_1_5_1","first-page":"179","article-title":"Putting the genetics back into cytogenetics","volume":"48","author":"Ferguson\u2010Smith MA","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_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_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)92995-4"},{"key":"e_1_2_1_8_1","first-page":"182","article-title":"Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly","volume":"50","author":"Ledbetter SA","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01790090"},{"key":"e_1_2_1_10_1","first-page":"384","article-title":"Saturation mapping of the region associated with cri\u2010du\u2010chat syndrome (5p15.2) using IRS\u2010PCR products from irradiation\u2010reduced hybrids to isolate region\u2010specific cosmid, YAC and cDNA clones","volume":"49","author":"McPherson JD","year":"1991","journal-title":"Am J Hum Genet suppl"},{"key":"e_1_2_1_11_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_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.23.9138"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410124"},{"key":"e_1_2_1_14_1","first-page":"700","article-title":"Analysis of reciprocal translocations by chromosome painting: Applications and limitations of the technique","volume":"50","author":"Rosenberg C","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.7.454"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970090708"},{"key":"e_1_2_1_17_1","first-page":"308","article-title":"Characterization of reciprocal translocations using chromosome\u2010specific DNA libraries","volume":"49","author":"Sullivan B","year":"1991","journal-title":"Am J Hum Genet, Suppl"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132600"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460113","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460113","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T00:00:39Z","timestamp":1698278439000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,4]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,4]]}},"alternative-id":["10.1002\/ajmg.1320460113"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460113","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,4]]}}}