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Updated: Dec 21, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Prenatal diagnosis of familial submicroscopic duplication at 18q22.3 without phenotypic abnormalities
Huamei Hu1, Yongyi Ma1, Rong Zhang1
1Department of Gynecology & Obstetrics, Southwest Hospital, Third Military Medical College (Army Medical College), Chongqing 400038, China.
Objective:
To report a case of familial submicroscopic duplication at 18q22.3 without phenotypic abnormalities.
Case Report:
Here, we reported two different cases with novel copy number variation at chromosome 18q22.3: one carried a maternally inherited 2.36 Mb microduplication, and the other carried a patrilineally inherited 1.74 Mb microduplication. The HumanCytoSNP-12 array allows for the visualization of the CNVs and maps the breakpoints. Both parents with the microduplication at 18q22.3 as well as their foetuses had normal phenotypes; the infants were regularly followed up after one year of age, and no abnormalities were found, including abnormalities related to growth, intelligence and sexual development.
Conclusion:
Our report showed that the duplication of 18q22.3 (chr18:68,606,012-71,287,101) might represent a benign variant.
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