Prenatal diagnosis of familial submicroscopic duplication at 18q22.3 without phenotypic abnormalities.

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. (C) 2020 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V.