Complex chromosome rearrangements:Report of a new case and literature review

Authors

  • G. S. Pai,

    Corresponding author
    1. Department of Pediatrics, Johns Hopkins University School of Medicine and John F. Kennedy Institute for Handicapped Children, Baltimore, U.S.A
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  • George H. Thomas,

    1. Department of Pediatrics, Johns Hopkins University School of Medicine and John F. Kennedy Institute for Handicapped Children, Baltimore, U.S.A
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  • William Mahoney,

    1. Department of Pediatrics, Johns Hopkins University School of Medicine and John F. Kennedy Institute for Handicapped Children, Baltimore, U.S.A
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  • Barbara R. Migeon

    1. Department of Pediatrics, Johns Hopkins University School of Medicine and John F. Kennedy Institute for Handicapped Children, Baltimore, U.S.A
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Division of Medical Genetics Department of Pediatrics Medical University of South Carolina 171 Ashley Avenue Charleston, S.C. 29403 U.S.A

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.

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