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We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p12-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis was conducted on umbilical cord blood for a fetus accompanied with tricuspid regurgitation and orbital hypertelorism from a 27-year-old gravida 4, para 1 after sonography at gestation 35weeks. The karyotype was unusual, with 46, XY, der...
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