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.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Faria RS,de Oliveira CP,da Costa MM,da S Rosa MT,Córdoba MS,Pic-Taylor A,Ferrari I,de Oliveira SF,Mazzeu JFdoi
10.1159/000445853subject
Has Abstractpub_date
2016-01-01 00:00:00pages
174-8issue
2-3eissn
1424-8581issn
1424-859Xpii
000445853journal_volume
148pub_type
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