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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.
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A 35-year-old, gravida 3, para 2, woman was referred to the hospital at 18 weeks of gestation for amniocentesis because of advanced maternal age and relatives with balanced and unbalanced chromosomal translocations. Her husband and her elder daughter had a balanced translocation of t(2;15)(q37.3;q24.3). Her younger daughter suffered from mental retardation… (More)