A family with Xq22.3q25 interstitial deletion and normal ovarian function

ObjectiveTo investigate genomic changes in a family with deletion of X chromosome q22.3-q25 associated with normal constitutional and reproductive phenotypes.DesignCase report.SettingAcademic district hospital genetic laboratory.Patient(s)A family incidentally found to have deletion of X chromosome q22.3-q25.Intervention(s)Cytogenetic analysis and array-based comparative genomic hybridization for amniotic fluid and peripheral blood lymphocyte of family members.Main Outcome Measure(s)Ovarian function and menstrual cycles.Result(s)The proband and two daughters showed deletion of Xq22.3q25. This region spans 17.4 Mb and contains 121 genes.Conclusion(s)Female subjects with deletion of Xq22.3q25 may present with normal constitutional and reproductive phenotypes.