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Prenatal identification of i(YP) by molecular cytogenetic analysis by Boris B. T. Wang; Loh-Chung Yu; Willow Peng; Rena E. Falk; John Williams III is a Medicine article available to read on EtoBox.

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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.

Who reads Prenatal identification of i(YP) by molecular cytogenetic analysis?

Author

Boris B. T. Wang; Loh-Chung Yu; Willow Peng; Rena E. Falk; John Williams III

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)

Published

1995

Language

EN

Field

Medicine (Health Sciences)