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Case Reports
. 1991 Feb;66(2):252-3.
doi: 10.1136/adc.66.2.252.

45,X/46,X dic (Y) mosaicism in a phenotypic male

P J Batstone  1 , M J Faed, R T Jung, J Gosden
Affiliations
Case Reports

45,X/46,X dic (Y) mosaicism in a phenotypic male

P J Batstone et al. Arch Dis Child. 1991 Feb.

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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References

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