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.
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| http://dx.doi.org/10.1016/j.fertnstert.2011.04.061 | DOI Listing |
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