Prenatal diagnostic indicators of paternal uniparental disomy 14

Abstract excerpt

OBJECTIVES: To present clinical findings of a child with paternal uniparental isodisomy 14 (pat UPD14) focusing on relevant prenatal characteristics. METHODS/RESULTS: Ultrasonography at 23 weeks of gestation of a 37-year-old multigravid woman revealed a fetus with polyhydramnios, small thorax, and short, distinctively angled ribs. Fetal karyotype was 46,XY. The child was born spontaneously at 35 weeks with poor...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital limb and hand anomalies
• Share to Genetic Syndromes and Imprinting
• Share to Prenatal Screening and Diagnostics