Abstract:The phenotypic description of prenatal Klinefelter syndrome (KS), or 47,XXY, is currently limited to case reports. There is a gap in knowledge regarding prenatal presentation of KS. We hypothesize that a significant percentage of pregnancies complicated by fetal KS will have associated ultrasonographic findings. STUDY DESIGN: We retrospectively identified all fetuses with cytogenetically confirmed 47,XXY in the prenatal period or up to age 5 years, with prenatal records available for review from four prenatal … Show more
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