Marker chromosomes are supernumerary chromosomes of unknown origin and are
seldom found in prenatal diagnosis. Application of fluorescent in situ hybr
idization (FISH) allows the identification of the chromosomal origin of mar
kers. Estimation of the risk of an abnormal phenotype outcome can be enable
d by collecting data on phenotypes associated with markers of the same chro
mosomal origin. So far only very few cases of prenatal diagnosis of de novo
supernumerary markers derived from chromosome 16 have been reported. Here
the prenatal diagnosis of a de novo supernumerary marker chromosome 16 is d
escribed and the relevant literature discussed. Copyright (C) 2001 John Wil
ey & Sons, Ltd.