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Isochromosome Xq in Klinefelter syndrome: Report of 7 new cases

✍ Scribed by Arps, S.; Koske-Westphal, T.; Meinecke, P.; Meschede, D.; Nieschlag, E.; Harprecht, W.; Steuber, E.; Back, E.; Wolff, G.; Kerber, S.; Helda, K. R.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 364 KB
Volume: 64
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960906)64:4<580::aid-ajmg10>3.0.co;2-d

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✦ Synopsis

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.

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