Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

2012 ◽  
Vol 32 (4) ◽  
pp. 389-395 ◽  
Author(s):  
George McGillivray ◽  
Jill A Rosenfeld ◽  
R. J. McKinlay Gardner ◽  
Lynn H. Gillam
Keyword(s):  
Microarray Analysis ◽  
Genetic Counselling ◽  
Ethical Issues ◽  
Prenatal Testing ◽  
Chromosome Microarray Analysis ◽  
Chromosome Microarray

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.

scholarly journals Current Practice and Utility of Chromosome Microarray Analysis in Infants Undergoing Cardiac Surgery

2014 ◽  
Vol 10 (3) ◽  
pp. E131-E138 ◽  
Author(s):  
Jason R. Buckley ◽  
Minoo N. Kavarana ◽  
Shahryar M. Chowdhury ◽  
Mark A. Scheurer
Keyword(s):  
Cardiac Surgery ◽  
Microarray Analysis ◽  
Current Practice ◽  
Chromosome Microarray Analysis ◽  
Chromosome Microarray
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