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Title: Deletion 22q11.2: Report of a complex meiotic mechanism of origin
Authors: Belangero, Sintia Iole [UNIFESP]
Hacker, April M.
Bellucco, Fernanda T. S.
Kulikowski, Leslie Domenici
Christofolini, Denise Maria
Cernach, Mirlene C.
Melaragno, Maria Isabel
Emanuel, Beverly S.
Universidade Federal de São Paulo (UNIFESP)
Univ Penn
Keywords: deletion 22q11.2
mechanism of deletion
haplotype reconstruction
Issue Date: 1-Aug-2007
Publisher: Wiley-Blackwell
Citation: American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 15, p. 1778-1781, 2007.
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.
ISSN: 1552-4825
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Appears in Collections:Em verificação - Geral

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