James R. Givens, M.D. (Member); Winfred L. Wiser, M.D.; Robert L. Summitt, M.D.; Stewart A. Fish, M.D.
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The physical findings, radiological findings, karyotypes, and plasma gonadotrophin levels of phenotypic females with gonadal dysgenesis are compared. Photographs of nine patients are used to illustrate the findings. The phenotypes vary from the completely normal-appearing female to the classic Turner syndrome. Short stature is not always present. Marked variability of phenotype exists even within the group with similar karyotypes. The buccal smear for Barr body examination was positive in some and negative in others. Buccal smears from four patients had a single sex-chromatin mass, one had a maximum of two masses, and four were sex-chromatin negative. Karyotypes to be presented
James R. Givens, Winfred L. Wiser, Robert L. Summitt, Stewart A. Fish. The Wide Phenotypic and Karyotypic Spectrum of Gonadal Dysgenesis.. Ann Intern Med. 1971;74:825. doi: 10.7326/0003-4819-74-5-825_3
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Published: Ann Intern Med. 1971;74(5):825.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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