Trisomy 8 mosaicism in chorionic villus sampling: Case report and counselling issues
作者： Jana Klein , John M. Graham , Lawrence D. Platt , Rhona Schreck
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摘要: We report an unusual case involving chorionic villus sampling (CVS) and trisomy 8 mosaicism. CVS showed a normal direct preparation while the culture mosaicism for 8. Subsequent amniocentesis revealed only chromosomes. A peripheral blood after birth low-level The patient appeared phenotypically developmentally at 30 months of age. conclude that prenatal counselling similar cases needs to include rare but real possibility chromosome detected prenatally may be found postnatally with largely unknown consequences. Secondly, chromosomal more common than previously recognized. Thirdly, very compatible phenotype long-term follow-up is required. And lastly, use fetal questionable in these because not accurately predicted. Further studies such are needed address important unanswered issues, including potential implication on academic performance cognitive functioning.
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