Prenatal identification of i(YP) by molecular cytogenetic analysis |
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| Authors: | Boris B T Wang PhD Loh-Chung Yu Willow Peng Rena E Falk John Williams III |
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| Institution: | 1. Department of Laboratory Medicine, University of California, San Francisco, San Francisco, CA, U.S.A.;2. The Prenatal Diagnostic Center of Southern California, Inc., Beverly Hills, CA, U.S.A.;3. Division of Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, U.S.A. |
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| 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. |
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| Keywords: | isochromosome FISH CGH prenatal diagnosis |
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