Abstract
We present 2 instances of Ullrich-Turner syndrome with mosaicism 45,X/46,X,idic(Xq)/47, X,idic(Xq),idic(Xq) and X-isochromosomes with 2 C-bands. The mosaicism with the 3 cell lines points to the presence of the isodicentric chromosome in the zygote and a subsequent nondisjunction event.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Abnormalities, Multiple / genetics*
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Adult
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Amenorrhea / genetics*
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Child
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Chromosome Aberrations / genetics*
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Chromosome Aberrations / pathology
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Chromosome Banding
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Chromosome Disorders
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Dosage Compensation, Genetic
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Female
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Humans
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Mosaicism*
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Nondisjunction, Genetic
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Ovary / abnormalities*
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X Chromosome / ultrastructure*