Deletion 22q11.2: Report of a complex meiotic mechanism of origin

dc.contributorUniversidade Federal de São Paulo (UNIFESP)
dc.contributorUniv Penn
dc.creatorBelangero, Sintia Iole [UNIFESP]
dc.creatorHacker, April M.
dc.creatorBellucco, Fernanda T. S.
dc.creatorKulikowski, Leslie Domenici
dc.creatorChristofolini, Denise Maria
dc.creatorCernach, Mirlene C.
dc.creatorMelaragno, Maria Isabel
dc.creatorEmanuel, Beverly S.
dc.date.accessioned2016-01-24T13:48:54Z
dc.date.accessioned2023-09-04T18:26:08Z
dc.date.available2016-01-24T13:48:54Z
dc.date.available2023-09-04T18:26:08Z
dc.date.created2016-01-24T13:48:54Z
dc.date.issued2007-08-01
dc.identifierAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 15, p. 1778-1781, 2007.
dc.identifier1552-4825
dc.identifierhttp://repositorio.unifesp.br/handle/11600/29900
dc.identifier10.1002/ajmg.a.31834
dc.identifierWOS:000249144900017
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8614607
dc.description.abstractWe 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.languageeng
dc.publisherWiley-Blackwell
dc.relationAmerican Journal of Medical Genetics Part A
dc.rightshttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.rightsAcesso restrito
dc.subjectdeletion 22q11.2
dc.subjectmechanism of deletion
dc.subjecthaplotype reconstruction
dc.titleDeletion 22q11.2: Report of a complex meiotic mechanism of origin
dc.typeArtigo


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