Deletion 22q11.2: report of a complex meiotic mechanism of origin.
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.
Nogueira
Sintia Iole
SI
Disciplina de Genética, Departamento de Morfologia, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Hacker
April M
AM
Bellucco
Fernanda T S
FT
Kulikowski
Leslie Domenici
LD
Christofolini
Denise Maria
DM
Cernach
Mirlene C
MC
Melaragno
Maria Isabel
MI
Emanuel
Beverly S
BS
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