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

摘要: Abstract Objective To present prenatal diagnosis of mosaic trisomy 15 at amniocentesis. Materials and methods A 37-year-old woman underwent amniocentesis 17 weeks gestation because advanced maternal age. Cytogenetic analysis cultured amniocytes revealed a karyotype 47,XY,+15[2]/46,XY[17]. She was referred for repeated 19 weeks gestation. Array comparative genomic hybridization (aCGH), interphase fluorescence in situ (FISH) quantitative fluorescent polymerase chain reaction assays on uncultured amniocytes, conventional cytogenetic aCGH FISH urinary cells after birth were applied. Cordocentesis 46,XY. Results At amniocentesis, karyotypes 46,XY [22 colonies], 21.2% (22/104 cells) mosaicism 15, gain (log2 ratio = 0.3) chromosome excluded uniparental disomy (UPD 15), culture no imbalance 15. healthy 3700 g male baby delivered 38 weeks with phenotypic abnormalities age 6 months. 6 months levels 20% (13/65 cells) 12.2% (6/49 cells), respectively. Conclusion Prenatal should alert doctors about the occurrence UPD clinically significant phenotype. The case provides evidence discrepancy between It is possible that abnormal cell lines disappear long-term culture.