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Updated: Mar 22, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[Genetic analysis of a patient featuring developmental delay and mental retardation]
Nan Bai1, Yifan Liu, Shiyue Mei
1Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
Objective:
To explore the genetic cause for a child featuring developmental delay and mental retardation.
Methods:
The child was analyzed with G-banded karyotyping and an Illumina Human CytoSNP-12 Beadchip.
Results:
The father of the patient had a normal karyotype. The mother had a karyotype of 46, XX, t(12;15)(p13.3;q13). The child had a karyotype of 45, XY, der(12)t(12;15)(p13.3;q13)mat, -15. SNP array analysis showed that the child has deletions in 12p13.31-p13.33 and 15q11.2-q13.2. But no deletion or duplication was detected in his mother.
Conclusion:
The unbalanced translocation involving chromosomes 12 and 15 probably accounts for the mental retardation in the child. SNP array is useful for the detection of chromosomal rearrangements and genetic counseling.
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