Identification of a large submetacentric X chromosome as pericentric inversion of an isochromosome of the long arm

True fetal mosaicism of an isochromosome

True fetal mosaicism of an isochromosome of the long arm of a chromosome 20: the dilemma persists

✍ R. A. Pfeiffer; R. Ulmer; A. Rauch; U. Trautmann; E. Beinder; T. Rupprecht; U. M 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 1 views

We report the prenatal findings of mos 46,XY/46,XY,i(20q) after amniocentesis. The propositus presented with two epidermal scalp scars, retrobulbar orbital cysts, and dyssegmentation of the thoracic spine. The abnormal cell line was discovered in cells cultured from the proximal umbilical cord and-b