Abstract
A patient with distal arthrogryposis, congenital dislocations of the hips, a prominent forehead, epicanthal folds, thin lips, and a poorly defined philtrum was found to have a deletion of 15q and a duplication of 16q. Her mother, maternal grandmother, and great grandmother had a balanced t(15q-, 16q+). The gene for adenine phosphoribosyl transferase was assignable to the 16q22----16qter area that was duplicated.
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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Adenine Phosphoribosyltransferase / genetics*
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Amniocentesis
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Arthrogryposis / genetics*
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Chromosome Banding
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Chromosome Deletion*
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Chromosome Mapping
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Chromosomes, Human, Pair 15*
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Chromosomes, Human, Pair 16*
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Female
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Humans
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Infant
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Karyotyping
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Multigene Family*
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Pedigree
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Pentosyltransferases / genetics*
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Pregnancy
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Translocation, Genetic*
Substances
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Pentosyltransferases
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Adenine Phosphoribosyltransferase