Article
Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q.
Prenatal diagnosis - 1 Mar 2006
Boehm D, Laccone F, Burfeind P, Herold S, Schubert C, Zoll B, Männer J, Pauer H U, Bartels I
Abstract excerpt
OBJECTIVE: To describe the prenatal phenotype of the 11q deletion syndrome (Jacobsen syndrome) and present the molecular characterization of the deletion in the case presented. CASE: Ultrasound at 18 and 20 weeks of gestation, on a 34-year-old woman who presented for amniocentesis, revealed slow movements, oligohydramnios and dilatation of the cerebral ventricles in the fetus. Maternal and paternal ages were 34...
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