Abstract
A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin--the first such instance to be recorded.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple / genetics
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Chromosome Banding
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Chromosome Mapping
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Chromosomes, Human, 1-3*
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Chromosomes, Human, 21-22 and Y*
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Chromosomes, Human, 6-12 and X*
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Female
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Glucosephosphate Dehydrogenase / genetics
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Humans
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Infant
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Male
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Sex Chromosomes*
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Translocation, Genetic*
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X Chromosome*
Substances
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Glucosephosphate Dehydrogenase