Case Reports
doi: 10.1136/adc.66.2.252.
45,X/46,X dic (Y) mosaicism in a phenotypic male
Affiliations
- PMID: 2001114
- PMCID: PMC1792831
- DOI: 10.1136/adc.66.2.252
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Case Reports
45,X/46,X dic (Y) mosaicism in a phenotypic male
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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