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45,X/46,X dic (Y) mosaicism in a phenotypic male.
  1. P J Batstone,
  2. M J Faed,
  3. R T Jung,
  4. J Gosden
  1. Department of Pathology, Ninewells Hospital and Medical School, Dundee.

    Abstract

    Cytogenetic analysis, confirmed by in situ hybridisation studies, showed a mosaic 45,X/46,X dic (Y) (q12) karyotype in a 14 year old boy who was initially diagnosed as having Noonan's syndrome. He made an early response to recombinant growth hormone; this suggests that this treatment may improve final height.

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