Objective: To investigate genomic changes in a family with deletion of X chromosome q22.3-q25 associated with normal constitutional and reproductive phenotypes. Design: Case report. Setting: Academic 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.
All Science Journal Classification (ASJC) codes
- Reproductive Medicine
- Obstetrics and Gynaecology