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.

journal_name

Cytogenet Genome Res

authors

Faria RS,de Oliveira CP,da Costa MM,da S Rosa MT,Córdoba MS,Pic-Taylor A,Ferrari I,de Oliveira SF,Mazzeu JF

doi

10.1159/000445853

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

174-8

issue

2-3

eissn

1424-8581

issn

1424-859X

pii

000445853

journal_volume

148

pub_type

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