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Updated: Dec 31, 2025
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[Clinical and genetic study of a child with 15q11.2 microduplication]
Jianlong Zhuang1, Yuanbai Wang, Shuhong Zeng
1Prenatal Diagnosis Center, Quanzhou Woman's and Children's Health Care Hospital, Quanzhou, Fujian 362000, China. 1287194067@qq.com.
Objective:
To explore the genetic basis of a child with developmental delay and intellectual disability.
Methods:
Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis.
Results:
No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus.
Conclusion:
15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.
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