Application of interphase fluorescence in situ hybridization to uncultured amniocytes for differential diagnosis of pseudomosaicism from true mosaicism in mosaic isochromosome 20q detected at amniocentesis

摘要

A 31-year-old, gravida 4, para 0, woman underwent amniocentesis at 17 weeks of gestation because of maternal anxiety. In four of 25 separated colonies of cultured amniocytes, an abnormal karyotype of 46,XX,i(20)(ql0) was noted, whereas the other 21 colonies had a karyotype of 46,XX. The cytogenetic result of cultured amniocytes was 46,XX,i(20)(ql0)[4]/46,XX[21]. The prenatal ultrasound findings were unremarkable. The parental karyotypes were normal.