Mosaic trisomy 15 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review

  • Chen, Chih-Ping
  • Chern, Schu-Rern
  • Chen, Yen-Ni
  • Wu, Peih-Shan
  • Yang, Chien-Wen
  • Chen, Li-Feng
  • Wang, Wayseen
Publication date
August 2015
Publisher
Elsevier BV

Abstract

AbstractObjectiveTo present prenatal diagnosis of mosaic trisomy 15 at amniocentesis.Materials and methodsA 37-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XY,+15[2]/46,XY[17]. She was referred for repeated amniocentesis at 19 weeks of gestation. Array comparative genomic hybridization (aCGH), interphase fluorescence in situ hybridization (FISH) and quantitative fluorescent polymerase chain reaction assays on uncultured amniocytes, conventional cytogenetic analysis and aCGH on cultured amniocytes, and FISH on uncultured urinary cells after birth were applied. Cordocentesis revealed a karyotype of 46,XY.ResultsAt repeat...

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