title: Concurrent Loss of Heterozygosity and Mosaic Deletion of 12p13.32pter.
abstract: Deletions in the short arm of chromosome 12 are the rarest subtelomeric imbalances. Less than 20 patients have been reported to date, and their microdeletions were identified either by FISH or array-CGH without SNP data. Here, we report a patient with a 12p13.32pter mosaic deletion detected by chromosome microarray analysis with loss of heterozygosity (LOH) of the deleted segment in addition to the adjacent distal segment. LOH is indicative of a complex rearrangement, suggestive of mitotic microhomology-mediated break-induced replication.
authors.affiliation: Programas de Px00F3;s-graduax00E7;x00E3;o em Cix00EA;ncias da Sax00FA;de, Universidade de Brasx00ED;lia, Brasx00ED;lia, Brazil.
authors.forename: Rosana S
authors.initials: RS
authors.lastname: Faria
authors.forename: Claudiner P
authors.initials: CP
authors.lastname: de Oliveira
authors.forename: Marcella M
authors.initials: MM
authors.lastname: da Costa
authors.forename: Maria T A
authors.initials: MT
authors.lastname: da S Rosa
authors.forename: Mara S
authors.initials: MS
authors.lastname: Córdoba
authors.forename: Aline
authors.initials: A
authors.lastname: Pic-Taylor
authors.forename: Iris
authors.initials: I
authors.lastname: Ferrari
authors.forename: Silviene F
authors.initials: SF
authors.lastname: de Oliveira
authors.forename: Juliana F
authors.initials: JF
authors.lastname: Mazzeu
mesh_terms: D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D004261:DNA Replication; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D019656:Loss of Heterozygosity / Q000235:genetics*; D008297:Male; D009030:Mosaicism