45,X/46,X dic (Y) mosaicism in a phenotypic male.
case_report · Level V
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- Record sourced from PubMed, PMID 2001114.
- Also identified by PMC identifier 1792831.
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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.
Medical subject headings
- Mosaicism
- Noonan Syndrome