Prenatal identification of i(Yp) by molecular cytogenetic analysis.
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.
Wang
B B
BB
Prenatal Diagnostic Center of Southern California, Inc., Beverly Hills 90211, USA.
Yu
L C
LC
Peng
W
W
Falk
R E
RE
Williams
J
J
D000328:Adult; D000653:Amniotic Fluid; D002873:Chromosome Fragility; D000013:Congenital Abnormalities / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes; D007621:Karyotyping; D008297:Male; D018587:Oocyte Donation; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D013533:Gestational Carriers; D014998:Y Chromosome
D005819:Genetic Markers