title: Deletion 22q11.2: report of a complex meiotic mechanism of origin.
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 markers flanking the deleted region, demonstrated a complex mechanism of origin of the deletion, involving one intrachromosomal and two interchromosomal events.
authors.affiliation: Disciplina de Genética, Departamento de Morfologia, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Sintia Iole
authors.initials: SI
authors.lastname: Nogueira
authors.forename: April M
authors.initials: AM
authors.lastname: Hacker
authors.forename: Fernanda T S
authors.initials: FT
authors.lastname: Bellucco
authors.forename: Leslie Domenici
authors.initials: LD
authors.lastname: Kulikowski
authors.forename: Denise Maria
authors.initials: DM
authors.lastname: Christofolini
authors.forename: Mirlene C
authors.initials: MC
authors.lastname: Cernach
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Melaragno
authors.forename: Beverly S
authors.initials: BS
authors.lastname: Emanuel
mesh_terms: D000328:Adult; D002585:Cesarean Section; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008540:Meiosis / Q000235:genetics*; D011247:Pregnancy