{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:43:35Z","timestamp":1764171815746},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3543,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Conventional cytogenetics is a useful clinical tool that has a lower limit of sensitivity of 2\u20135 Mb for detection of duplications of deletions. Because the threshold of clinically significant aneusomy is below this range, there is a need for approaches to improve the sensitivity of the detection of aneusomy. We have implemented a system of screening for subtle unbalanced translocations in children with multiple congenital anomalies of unkonwn cause. Our approach uses subtelomeric microsatellite markers to detect small areas of segmental aneusomy due to unbalanced translocations. Herein we report a patient with severe multiple congenital anomalies and a normal karyotype who was diagnosed by this approach. Microsatellite markers from 41 telomeres were analyzed and were normal with the exception of those on distal chromosome 22. Further analysis with additional microsatellites and fluorescent in <jats:italic>in situ<\/jats:italic> hybridization confirmed duplication of 22q13.2\u2010qter. We conclude that microsatellite screening can detect subtle unbalanced translocations in children with severe anomalies. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320580426","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:09:00Z","timestamp":1118513340000},"page":"389-394","source":"Crossref","is-referenced-by-count":25,"title":["Detection of a subtle rearrangement of chromosome 22 using molecular techniques"],"prefix":"10.1002","volume":"58","author":[{"given":"Leslie G.","family":"Biesecker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjorie","family":"Rosenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Dziadzio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"Ledbetter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Ning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmella","family":"Sarneso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth","family":"Rosenbaum","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","volume-title":"Chromosomal Variation in Man","author":"Borgaonakar DS","year":"1994"},{"key":"e_1_2_1_3_1","first-page":"37","article-title":"Trisomy 22q12\u2010qter: Aneusomie de recombinasion of a pericentric inversion","volume":"24","author":"Cant\u00fa JM","year":"1981","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-97"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-132"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00285406"},{"key":"e_1_2_1_7_1","volume-title":"Syndromes of The Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0694supp-246"},{"key":"e_1_2_1_9_1","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1988"},{"key":"e_1_2_1_10_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_11_1","first-page":"39","volume-title":"Genome Analysis","author":"Lehrach H","year":"1990"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8091227"},{"key":"e_1_2_1_13_1","first-page":"1156","article-title":"Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome","volume":"56","author":"Nickerson E","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","first-page":"47","article-title":"The 22q distal trisomy syndrome in a recombinant child","volume":"31","author":"Riv\u00e9ra H","year":"1988","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_15_1","first-page":"1219","article-title":"Molecular, cytogenetic, and clinical investigations of Prader\u2010Willi syndrome patients","volume":"49","author":"Robinson WP","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274676"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320580426","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320580426","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T06:38:03Z","timestamp":1698302283000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320580426"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,9,25]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1995,9,25]]}},"alternative-id":["10.1002\/ajmg.1320580426"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320580426","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,9,25]]}}}