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