scholarly journals Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Huili Xue ◽  
Hailong Huang ◽  
Yan Wang ◽  
Gang An ◽  
Min Zhang ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Marker Chromosomes ◽  
Molecular Cytogenetic ◽  
Chromosome Microarray Analysis ◽  
Chromosome Microarray ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes

Concurrent Loss of Heterozygosity and Mosaic Deletion of 12p13.32pter

2016 ◽  
Vol 148 (2-3) ◽  
pp. 174-178
Author(s):  
Rosana S. Faria ◽  
Claudiner P. de Oliveira ◽  
Marcella M. da Costa ◽  
Maria T.A. da S. Rosa ◽  
Mara S. Córdoba ◽  
...  
Keyword(s):  
Loss Of Heterozygosity ◽  
Microarray Analysis ◽  
Array Cgh ◽  
Distal Segment ◽  
Chromosome 12 ◽  
Chromosome Microarray Analysis ◽  
Complex Rearrangement ◽  
Snp Data ◽  
Break Induced Replication ◽  
Chromosome Microarray

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.

Clinical Impact of Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes

2013 ◽  
Vol 139 (3) ◽  
pp. 158-163 ◽  
Author(s):  
T. Liehr ◽  
E. Klein ◽  
K. Mrasek ◽  
N. Kosyakova ◽  
R.S. Guilherme ◽  
...  
Keyword(s):  
Somatic Mosaicism ◽  
Clinical Impact ◽  
Marker Chromosomes ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes
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