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Prenatal identification of i(YP) by molecular cytogenetic analysis
Author(s) -
Wang Boris B. T.,
Yu LohChung,
Peng Willow,
Falk Rena E.,
Williams John
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970151206
Subject(s) - fluorescence in situ hybridization , prenatal diagnosis , comparative genomic hybridization , molecular cytogenetics , amniotic fluid , cytogenetics , biology , fetus , chromosome , hybridization probe , karyotype , marker chromosome , in situ hybridization , genetics , pathology , microbiology and biotechnology , pregnancy , dna , medicine , gene , gene expression
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.