Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation

Introduction: Partial 17q duplication is a rare chromosome abnormality. Features include severe psychomotor retardation, intellectual disability, facial dysmorphism, proximal limb shortness, and hyperlaxity of limb joints. Case Presentation: The proband is a 7-year and 4-month-old boy with developmental delay, facial abnormality, joint laxity and scoliosis, ventriculomegaly, hydrocephalus, hypophosphatemia, and squint, while his older brother is a fetus who was aborted at 33rd week of gestation because of multiple malformations including ventriculomegaly and moderate hydrocephalus. Both siblings have features such as ventriculomegaly and hydrocephalus. Conclusion: Here, we report 2 sibling cases with 17q25 duplication from a maternal translocation t(14;17). Our findings expanded the clinical spectra and described the fetal phenotype of 17q25 microduplication.