24 research outputs found
Prenatal diagnosis of partial tetrasomy 14: a case study
Prenatal specimens were received from a fetus with abnormalities noted on ultrasound. A supernumerary marker chromosome (SMC) was detected: 47,XY, +mar. Fluorescence in situ hybridisation (FISH) further classified this to be partial tetrasomy for chromosome 14. We compare this finding with other cases of SMC (14) and further classify phenotype with karyotype. Copyright (C) 2002 John Wiley Sons, Ltd