Rapid diagnosis of pseudomosaicism in a case of Level II mosaicism for trisomy 5 in a single colony from an in situ culture of amniocytes and a review of mosaic trisomy 5 at amniocentesis

Abstract excerpt

OBJECTIVE: We present prenatal diagnosis of pseudomosaicism for trisomy 5 and a review of the literature of mosaic trisomy 5 at amniocentesis. CASE REPORT: A 39-year-old woman underwent amniocentesis at 17 weeks of gestation, which revealed a karyotype of 47,XY,+5[1]/46,XY[20]. The single colony with trisomy 5 had five metaphase cells, and all five cells had the karyotype of 47,XY,+5. Repeat amniocentesis...

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