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A de novo X;13 translocation with abnormal phenotype.
  1. S V Hodgson,
  2. J C Barber,
  3. A Dowie,
  4. V Dubowitz

    Abstract

    We describe a female infant who presented with hypotonia and developmental delay. Her karyotype showed a de novo balanced translocation between the X chromosome and chromosome 13, with breakpoints at Xq13 and 13p11. The normal X was late replicating in all cells examined. The cause of this patient's abnormal phenotype is discussed.

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