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Published on: February 3, 2012
Isochromosome Xq in Klinefelter syndrome: report of 7 new cases
S Arps1, T Koske-Westphal, P Meinecke
1Labor Dres. Fenner, Abteilung Cytogenetik und Pränatale Diagnostik, Hamburg, Germany.
Abstract:
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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