Abstract
A viable duplication in the proximal long arm of the X chromosome in a boy with a malformative syndrome was delineated with molecular biology techniques using 14 probes from the X cen-Xq21 region. This analysis allowed us to refine the physical map of the X cen-Xq13 region.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics
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Adult
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Blotting, Southern
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Cells, Cultured
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Child
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Chromosome Banding
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Female
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Genetic Markers
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Humans
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Male
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Molecular Probes
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Multigene Family*
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X Chromosome*
Substances
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Genetic Markers
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Molecular Probes