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Multiple congenital defects associated with trisomy for the short arm of chromosome 4
  1. Lynne Owen*,
  2. Barbara Martin*,
  3. C. E. Blank*,
  4. F. Harris

    Abstract

    The clinical and cytogenetic findings of a female infant with multiple congenital anomalies and trisomy for the short arm of chromosome 4(46,XX,21p+) are described. The abnormal chromosome was inherited from the father who had a balanced translocation between the short arm of chromosome 4 and the short arm of chromosome 21. Clinical features are compared with those of one definite and one probable previously described case of trisomy for the short arm of chromosome 4. It is suggested that a clinical syndrome associated with +4p eventually may be identified.

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    Footnotes

    • * Centre for Human Genetics, Sheffield.

    • Department of Child Health, University of Sheffield.

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