Related Experiment Video
Updated: Feb 21, 2026
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
[Prenatal diagnosis and genetic analysis of a fetus with 6q27 microdeletion]
Dong Wu1, Weili Shi, Hongdan Wang
1Henan Provincial People's Hospital, Medical Genetic Institute of Henan Province, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China. ychslshx@126.com.
Objective:
To determine the origin and pathogenicity of a chromosomal aberration for a fetus and analyze the possible mechanism.
Methods:
The karotypes of the fetus and its parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH).
Results:
No karyotypic abnormality was detected at cytogenetic level for the fetus and its parents. aCGH has identified a de novo 2.04 Mb deletion at 6q27 in the fetus. The region involves candidate genes responsible for structural brain abnormalities. The area flanking the chromosomal breakpoint contains a 2410 bp sequence rich in palindromes which can form stable secondary structures.
Conclusion:
The de novo 6q27 deletion is pathogenic. The 6q27 deletion may be responsible for the structural brain abnormalities in the fetus. The palindrome sequence flanking the chromosomal breakpoint may be involved the formation of the 6q27 deletion.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
09:16Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
