scholarly journals Role of Targeted Fetal Ultrasound Examination in Combination of Chromosome Microarray Analysis for Prenatal Diagnosis

2017 ◽  
Vol 43 ◽  
pp. S136-S137
Author(s):  
Heng-Kien Au ◽  
Li-Wei Chien ◽  
Szu-Yuan Chou
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Ultrasound Examination ◽  
Fetal Ultrasound ◽  
Chromosome Microarray Analysis ◽  
Chromosome Microarray

scholarly journals Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis

Medicine ◽  
2019 ◽  
Vol 98 (14) ◽  
pp. e15027 ◽  
Author(s):  
Hong Qi ◽  
Jianjiang Zhu ◽  
Shaoqin Zhang ◽  
Lirong Cai ◽  
Xiaohui Wen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
De Novo ◽  
Deletion Syndrome ◽  
Chromosome Microarray Analysis ◽  
Chromosome Microarray

Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience

2021 ◽  
Author(s):  
Meena Bajaj Lall ◽  
Shruti Agarwal ◽  
Preeti Paliwal ◽  
Pushpa Saviour ◽  
Anju Joshi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Chromosome Microarray Analysis ◽  
Indian Experience ◽  
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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