Artigo
Deletion 22q11.2: Report of a complex meiotic mechanism of origin
Fecha
2007-08-01Registro en:
American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 15, p. 1778-1781, 2007.
1552-4825
10.1002/ajmg.a.31834
WOS:000249144900017
Autor
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.
Institución
Resumen
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.