| Autor: |
Arps S; Labor Dres. Fenner, Abteilung Cytogenetik und Pränatale Diagnostik, Hamburg, Germany., Koske-Westphal T, Meinecke P, Meschede D, Nieschlag E, Harprecht W, Steuber E, Back E, Wolff G, Kerber S, Held KR |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 1996 Sep 06; Vol. 64 (4), pp. 580-2. |
| DOI: |
10.1002/(SICI)1096-8628(19960906)64:4<580::AID-AJMG10>3.0.CO;2-D |
| Abstrakt: |
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: |
MEDLINE |
| Externí odkaz: |
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