Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome

• Päätekijät: Chih-Ping Chen (Tekijä), Yi-Ning Su (Tekijä), Tung-Yao Chang (Tekijä), Schu-Rern Chern (Tekijä), Chen-Yu Chen (Tekijä), Jun-Wei Su (Tekijä), Wayseen Wang (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Elsevier, 2013-06-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Objective: To present prenatal ultrasound and molecular genetic diagnosis of Apert syndrome. Case Report: A 30-year-old, gravida 3, para 2 woman was referred for genetic counseling at 32 weeks of gestation because of polyhydramnios and craniofacial and digital abnormalities in the fetus. She had und...