Abstract
Three patients carrying an isodicentric (idic) Y chromosome associated with a mosaic 45,X cell line were studied using molecular techniques. Genotype-phenotype correlations suggested an effect of the 45,X cell line on sexual differentiation. A relationship was established between instability of the idic(Y) chromosome and localization of the breakpoint on Yq, and between azoospermia and deletion of interval 6 on Yq.
MeSH terms
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Adult
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Child
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DNA-Binding Proteins / genetics
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Female
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Genotype
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Humans
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In Situ Hybridization, Fluorescence
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Infant
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Karyotyping
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Male
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Nuclear Proteins / genetics
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Open Reading Frames
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Phenotype
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Sequence Tagged Sites
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Sex Chromosome Aberrations / genetics*
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Sex Determination Analysis
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Sex-Determining Region Y Protein
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Transcription Factors / genetics
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Y Chromosome*
Substances
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DNA-Binding Proteins
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Nuclear Proteins
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Sex-Determining Region Y Protein
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Transcription Factors