Article
Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites.
Prenatal diagnosis - 1 Jul 2005
Schlüter Gregor, Steckel Maren, Schiffmann Holger, Harms Karsten, Viereck Volker, Emons Günter, Burfeind Peter, Pauer Hans-Ulrich
Abstract excerpt
Prenatal molecular genetic diagnosis for Noonan syndrome I is reported. Noonan syndrome was suspected because of large cystic hygroma colli, massive pleural effusion and ascites at 23 weeks of gestation and normal karyotype (46,XX). DNA was prepared from amnion cells and screened for mutations in the PTPN11 gene. In exon 8, a missense mutation (S285F) was found. Delivery was induced at 33 weeks of gestation...
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