Non-mosaic trisomy 16 in a third-trimester fetus.

摘要: Background: Trisomy 16 is the most common trisomy in first-trimester spontaneous abortions, suggesting a high rate of non-disjunction this chromosome. Deoxyribonucleic acid studies aborted conceptuses with have demonstrated maternal origin all cases. There been cases confined placental mosaicism, fetal and partial involving chromosome reported term fetuses. However, to our knowledge, there no previous reports near-term fetus full since advent modern chromosomal banding techniques. Case: A 25-year-old Filipino woman underwent obstetric sonographic evaluation at 32 weeks' gestation; results were remarkable for oligohydramnios, severe growth restriction, multiple dysmorphic features. Percutaneous umbilical blood sampling was performed rapid karyotyping, viral serology, profiles. The karyotype 47,XX,+16; remainder laboratory analysis unremarkable. patient went into labor 35 gestation delivered stillborn female (birth weight 783 g). Chromosomes from skin, brain, chorionic villi examined (47,XX,+16). primers known polymorphic regions used determined extra be during paternal meiosis. Conclusion: Previously, has thought incompatible survival past early second trimester. This case also contrasts previously experience that parental originated father, derivation additional may play role ultimate phenotypic expression.