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- W2166620659 abstract "<h3>Objective</h3> To investigate genomic changes in a family with deletion of X chromosome q22.3-q25 associated with normal constitutional and reproductive phenotypes. <h3>Design</h3> Case report. <h3>Setting</h3> Academic district hospital genetic laboratory. <h3>Patient(s)</h3> A family incidentally found to have deletion of X chromosome q22.3-q25. <h3>Intervention(s)</h3> Cytogenetic analysis and array-based comparative genomic hybridization for amniotic fluid and peripheral blood lymphocyte of family members. <h3>Main Outcome Measure(s)</h3> Ovarian function and menstrual cycles. <h3>Result(s)</h3> The proband and two daughters showed deletion of Xq22.3q25. This region spans 17.4 Mb and contains 121 genes. <h3>Conclusion(s)</h3> Female subjects with deletion of Xq22.3q25 may present with normal constitutional and reproductive phenotypes." @default.
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- W2166620659 date "2011-07-01" @default.
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- W2166620659 title "A family with Xq22.3q25 interstitial deletion and normal ovarian function" @default.
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- W2166620659 doi "https://doi.org/10.1016/j.fertnstert.2011.04.061" @default.
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