{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:42:38Z","timestamp":1764171758105},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,8,30]],"date-time":"2002-08-30T00:00:00Z","timestamp":1030665600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a patient with a mosaic karyotype resulting from an adjacent 1 segregation of the familial autosomal translocation (11;22). The karyotype seen in fibroblast is 46,XY,der(22)t(11;22)(q23.3;q11.2)\/46,XY. No evidence of the abnormal cell line was seen in the cultures obtained from the lymphocytes. The clinical phenotype of the patient does not fit a particular pattern of partial monosomy 22 or partial trisomy 11. There are some features that have been previously reported in patients with trisomy 11q23\u2009\u2192\u2009qter. The mosaic karyotype in our patient could be a result of a series of postzygotic mitotic events of a zygote carrying the der(22) chromosome. These mechanisms involve events that are well documented for several chromosomes. This case underscores the necessity of performing exhaustive cytogenetic analysis in patients with an abnormal phenotype with a family history of a chromosome rearrangement in fibroblast cells if lymphocyte analysis is normal. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.10801","type":"journal-article","created":{"date-parts":[[2002,12,2]],"date-time":"2002-12-02T13:52:40Z","timestamp":1038837160000},"page":"367-370","source":"Crossref","is-referenced-by-count":14,"title":["Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): Importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies"],"prefix":"10.1002","volume":"113","author":[{"given":"Anita S.","family":"Kulharya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn Mills","family":"Lovell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David B.","family":"Flannery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,8,30]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370227"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.11.952"},{"key":"e_1_2_4_4_1","volume-title":"Clinical atlas of human chromosomes","author":"De Grouchy J","year":"1977"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<347::AID-AJMG4>3.0.CO;2-G"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050977"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281567"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00292366"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990129)82:3<265::AID-AJMG14>3.0.CO;2-6"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00276346"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00285174"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420218"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.2.193"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90242-K"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02725.x"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010615)101:2<91::AID-AJMG1340>3.0.CO;2-C"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.16.2421"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/302666"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00215688"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.1.18"},{"key":"e_1_2_4_21_1","first-page":"231","article-title":"Unbalanced karyotype due to adjacent\u20101 segregation of t(11;22) (q23.3;q13.2)","volume":"35","author":"Tachdjian G","year":"1992","journal-title":"Ann Genet"},{"key":"e_1_2_4_22_1","first-page":"77","article-title":"Identification by fluorescent microscopy of the abnormal chromosomes associated with the G deletion syndromes","volume":"25","author":"Warren RJ","year":"1973","journal-title":"Am J Med Genet"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.4.283"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.10801","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.10801","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T18:24:42Z","timestamp":1696962282000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.10801"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,8,30]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,12,15]]}},"alternative-id":["10.1002\/ajmg.b.10801"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.10801","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,8,30]]}}}