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Updated: Feb 17, 2026
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome]
Dong Wu1, Tao Li, Hongdan Wang
1Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
Objective:
To determine the origin of chromosomal aberration in a boy with mental retardation and multiple congenital malformations.
Methods:
The karotypes of the proband and his parents were analyzed with conventional G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH).
Results:
No karyotypic abnormality was detected in the proband and his parents. aCGH has identified a de novo 405 kb deletion at 9q34.3 in the proband, which encompassed the EHMT1 gene and part of CACNA1B gene.
Conclusion:
The de novo 9q34.3 deletion probably underlies the mental retardation and development delay in the boy. EHMT1 may be one of the key genes responsible for 9q34.3 microdeletion syndrome.
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