Wang B B, Yu L C, Peng W, Falk R E, Williams J
Prenatal Diagnostic Center of Southern California, Inc., Beverly Hills 90211, USA.
Prenat Diagn. 1995 Dec;15(12):1115-9. doi: 10.1002/pd.1970151206.
An i(Yp) is a rare marker chromosome. We present a case of de novo 46,X,i(Yp) detected prenatally in an amniotic fluid specimen. Fluorescence in situ hybridization (FISH) studies using a panel of Y-specific biotinylated DNA probes identified the marker chromosome as i(Yp). Comparative genomic hybridization (CGH) studies further confirmed the diagnosis. Upon pregnancy termination, external examination of the fetus revealed a generally well-developed male fetus with slight facial dysmorphism and prominent rocker-bottom feet. The molecular cytogenetic data in this case proved very useful in genetic counselling and served as a good example illustrating the important role of molecular techniques for accurate identification of marker chromosomes.
