Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor

2016 ◽  
Vol 59 (12) ◽  
pp. 618-623 ◽  
Author(s):  
Mark A. Micale ◽  
Bedford Embrey ◽  
Jacqueline K. Macknis ◽  
Cheryl E. Harper ◽  
David J. Aughton
Keyword(s):  
Microarray Analysis ◽  
Congenital Anomalies ◽  
Wilms Tumor ◽  
Multiple Congenital Anomalies ◽  
Chromosome Microarray Analysis ◽  
Mycn Gene ◽  
Chromosome Microarray ◽  
Bilateral Wilms Tumor

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

The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies

1984 ◽  
Vol 19 (1) ◽  
pp. 195-207 ◽  
Author(s):  
Giovanni Neri ◽  
Maria Enrica Martini-Neri ◽  
Ben E. Katz ◽  
John M. Opitz
Keyword(s):  
Congenital Anomalies ◽  
Wilms Tumor ◽  
Renal Dysplasia ◽  
Multiple Congenital Anomalies

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
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