Ring chromosome 21 presenting with sacrococcygeal teratoma: Prenatal diagnosis, molecular cytogenetic characterization and literature review

• We present prenatal diagnosis and molecular analysis of mosaic r(21).
• The phenotype includes facial dysmorphisms and a sacrococcygeal teratoma.
• We discuss cytogenetic abnormalities associated with fetal sacrococcygeal teratoma.

We present perinatal findings and molecular cytogenetic characterization of a prenatally detected sacrococcygeal teratoma associated with mosaic r(21). This is the first report of mosaic r(21) presenting with a fetal sacrococcygeal teratoma. We discuss cytogenetic abnormalities associated with fetal sacrococcygeal teratomas.