dc.contributor | Universidade Federal de São Paulo (UNIFESP) | |
dc.contributor | Univ Penn | |
dc.creator | Belangero, Sintia Iole [UNIFESP] | |
dc.creator | Hacker, April M. | |
dc.creator | Bellucco, Fernanda T. S. | |
dc.creator | Kulikowski, Leslie Domenici | |
dc.creator | Christofolini, Denise Maria | |
dc.creator | Cernach, Mirlene C. | |
dc.creator | Melaragno, Maria Isabel | |
dc.creator | Emanuel, Beverly S. | |
dc.date.accessioned | 2016-01-24T13:48:54Z | |
dc.date.accessioned | 2023-09-04T18:26:08Z | |
dc.date.available | 2016-01-24T13:48:54Z | |
dc.date.available | 2023-09-04T18:26:08Z | |
dc.date.created | 2016-01-24T13:48:54Z | |
dc.date.issued | 2007-08-01 | |
dc.identifier | American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 15, p. 1778-1781, 2007. | |
dc.identifier | 1552-4825 | |
dc.identifier | http://repositorio.unifesp.br/handle/11600/29900 | |
dc.identifier | 10.1002/ajmg.a.31834 | |
dc.identifier | WOS:000249144900017 | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8614607 | |
dc.description.abstract | We report on the case of a patient with a typical de novo 3 Mb 22q11.2 deletion. Haplotype reconstruction of the family, using polymorphic markets flanking the deleted region, demonstrated a complex mechanism of origin of the deletion, involving one intrachromosomal and two interchromosomal events. (c) 2007 Wiley-Liss, Inc. | |
dc.language | eng | |
dc.publisher | Wiley-Blackwell | |
dc.relation | American Journal of Medical Genetics Part A | |
dc.rights | http://olabout.wiley.com/WileyCDA/Section/id-406071.html | |
dc.rights | Acesso restrito | |
dc.subject | deletion 22q11.2 | |
dc.subject | mechanism of deletion | |
dc.subject | haplotype reconstruction | |
dc.title | Deletion 22q11.2: Report of a complex meiotic mechanism of origin | |
dc.type | Artigo | |