{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T05:07:22Z","timestamp":1721279242388},"reference-count":18,"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":3683,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,5,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a patient with a chromosomal mosaicism involving the X chromosome. One cell line is 45,X and the other has a de novo paternally derived dicentric X;15 translocation. Her karyotype is therefore 45,X\/45,X,dic(X;15)(Xpter\u2192Xq26.1: : 15p11\u219215 qter) based on G\u2010banding. The presence of 2 centromeres on the derivative X was confirmed by fluorescence in situ hybridization (FISH) and a deletion of Xq26.1\u2192qter was confirmed by polymerase chain reaction (PCR) using DXS52 and DXYS154. Replication banding studies indicate that the derivative X is late replicating. Based on these studies, it is unclear whether inactivation has spread to proximal 15q. The patient has a unique phenotype distinct from Ullrich\u2010Turner or Prader\u2010Willi syndromes, but includes ataxia and language delay which are commonly seen in Angelman syndrome. These findings are contrary to those anticipated since deficiency of paternal genes at 15q12 typically leads to Prader\u2010Willi syndrome. Molecular analysis of PCR\u2010based polymorphisms of chromosome 15 and X indicates that uniparental disomy is not present for the X chromosome or chromosome 15 in either cell line. It is hypothesized that her phenotype results from the interaction of the 2 abnormal genotypes. Each abnormality may be diluted by the mosaicism and, in the derivative X line, by the possible variation among cells of inactivation spreading to chromosome 15. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320560411","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:00:38Z","timestamp":1118512838000},"page":"403-408","source":"Crossref","is-referenced-by-count":3,"title":["Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(xpter\u2192xq26.1::15p11\u219215qter)"],"prefix":"10.1002","volume":"56","author":[{"given":"Angela","family":"Scheuerle","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie L.","family":"Zenger\u2010Hain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel L.","family":"Van Dyke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"Ledbetter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Greenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa G.","family":"Shaffer","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":"10.1002\/ajmg.1320020304"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90526-I"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90534-2"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90493-E"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1465614"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00329173"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291884"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.2.143"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.8.1944"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430138"},{"issue":"4","key":"e_1_2_1_12_1","first-page":"59","article-title":"Sex Chromosome Aneuploidy: The Denver Prospective Study","volume":"26","author":"Robinson A","year":"1991","journal-title":"BD: OAS"},{"key":"e_1_2_1_13_1","first-page":"968","article-title":"Molecular characterization of de novo secondary trisomy 13","volume":"55","author":"Shaffer LG","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470317"},{"key":"e_1_2_1_15_1","first-page":"463","article-title":"Deletion (X)(q26.1\u2192q28) in a proband and her mother: Molecular characterization and phenotypic\u2010karyotypic deductions","volume":"52","author":"Tharapel AT","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","first-page":"159","volume-title":"Cytogenetics of the Mammalian X Chromosome, Part B","author":"Therman E","year":"1983"},{"key":"e_1_2_1_17_1","first-page":"182","volume-title":"Human Chromosomes, Structure, Behavior, Effects","author":"Therman E","year":"1986"},{"key":"e_1_2_1_18_1","first-page":"388","article-title":"Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction","volume":"44","author":"Weber JL","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/359794a0"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320560411","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320560411","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T20:39:46Z","timestamp":1698352786000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320560411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,5,8]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1995,5,8]]}},"alternative-id":["10.1002\/ajmg.1320560411"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320560411","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,5,8]]}}}