Myocardial perforation by transvenous pacemaker in a newborn infant: Echocardiographic diagnosis

Paternal isodisomy 13 in a normal newbor

Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis

✍ Soler, Anna; Margarit, Ester; Queralt, Rosa; Carri�, Ana; Costa, Dolors; G�mez, 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

Maternal and paternal uniparental disomy of chromosome 13 have been associated with normal phenotypes. We report on a new case of paternal isodisomy 13 in a phenotypically normal girl. Prenatal diagnosis had shown a 46,XX,-13,der(13;13) karyotype in chorionic villi and a 45,XX,der(13;13) karyotype i