| Autor: |
S, Arps, T, Koske-Westphal, P, Meinecke, D, Meschede, E, Nieschlag, W, Harprecht, E, Steuber, E, Back, G, Wolff, S, Kerber, K R, Held |
| Rok vydání: |
1996 |
| Předmět: |
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| Zdroj: |
American journal of medical genetics. 64(4) |
| ISSN: |
0148-7299 |
| Popis: |
In this collaborative study we report on 2 prenatally and 5 postnatally diagnosed cases with a 47,X,i(Xq),Y chromosomal constitution. Excepting tall stature, the 5 adult patients showed all typical manifestations of Klinefelter syndrome. Taken together with previously reported cases, these data suggest that Klinefelter syndrome with isochromosome Xq has a favorable prognosis with normal mental development, and with normal-to-short stature. The prevalence of this Klinefelter variant is calculated to be between 0.3-0.9% in males with X chromosome polysomies. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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