title: Prenatal identification of i(Yp) by molecular cytogenetic analysis.
abstract: 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.
authors: Prenatal Diagnostic Center of Southern California, Inc., Beverly Hills 90211, USA.
authors: B B
authors: BB
authors: Wang
authors: L C
authors: LC
authors: Yu
authors: W
authors: W
authors: Peng
authors: R E
authors: RE
authors: Falk
authors: J
authors: J
authors: Williams
mesh_terms: 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
chemical_list: D005819:Genetic Markers