Arps S, Koske-Westphal T, Meinecke P, Meschede D, Nieschlag E, Harprecht W, Steuber E, Back E, Wolff G, Kerber S, Held K R
Labor Dres. Fenner, Abteilung Cytogenetik und Pränatale Diagnostik, Hamburg, Germany.
Am J Med Genet. 1996 Sep 6;64(4):580-2. doi: 10.1002/(SICI)1096-8628(19960906)64:4<580::AID-AJMG10>3.0.CO;2-D.
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.
在这项合作研究中，我们报告了2例产前诊断和5例产后诊断的染色体组成为47,X,i(Xq),Y的病例。除身材高大外，这5名成年患者均表现出克兰费尔特综合征的所有典型症状。结合先前报道的病例，这些数据表明，具有Xq等臂染色体的克兰费尔特综合征预后良好，智力发育正常，身材正常至矮小。计算得出，在患有X染色体多体性的男性中，这种克兰费尔特综合征变体的患病率在0.3%-0.9%之间。
