Thomas Liehr

Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.

[ 1 ] - Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities

Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...