Abstract
A balanced de novo (X;9) translocation was observed in a patient with progressive muscular dystrophy of Duchenne's type (DMD), Turner's syndrome, epilepsy and mental retardation. The involvement of the paternal X is suggested. The assignment of the gene locus for DMD is confirmed on Xp21.
MeSH terms
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Adult
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Chromosome Banding
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Chromosomes, Human, 21-22 and Y
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Female
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Humans
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Karyotyping
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Muscular Dystrophies / complications
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Muscular Dystrophies / genetics*
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Sex Chromosome Aberrations / genetics
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Translocation, Genetic*
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Turner Syndrome / complications
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Turner Syndrome / genetics*