Richer C L, Bleau G, Chapdelaine A, Murer-Orlando M, Lemieux N, Cadotte M
Département d'Anatomie, Université de Montréal, Canada.
Am J Med Genet. 1989 Jan;32(1):42-4. doi: 10.1002/ajmg.1320320110.
We report on a patient with Klinefelter syndrome (KS) and the homogeneous aneuploidy 47,Xi(Xq)Y, or male trisomy Xq. He had many characteristics of classical KS: small testes, azoospermia, elevated FSH and LH, average intelligence, and normal androgenization, but his stature was not increased, compared with his father's and brothers'. The i(Xq), found in all cells analyzed, was late-replicating, monocentric, and also asymmetric for the RBG-banding of the two arms, indicating a different chronology of DNA synthesis in each arm. When indicated, in the seven previously reported cases, the level of plasma testosterone was always subnormal; it was normal (650 ng/100 ml) in our patient, who had normal masculinization. Thus the level of testosterone among patients with KS is not necessarily lower with an extra Xq. Furthermore, the sharp contrast in the height of KS patients with or without an i(Xq) is striking. It appears definitely possible to associate the isochromosome Xq Klinefelter syndrome with a lack of height increase.
我们报告了一名患有克兰费尔特综合征（KS）且核型为47,Xi(Xq)Y（即男性Xq三体）的患者。他具有典型KS的许多特征：睾丸小、无精子症、促卵泡生成素（FSH）和促黄体生成素（LH）升高、智力中等以及雄激素化正常，但与他的父亲和兄弟相比，他的身高并未增加。在所分析的所有细胞中发现的i(Xq)复制延迟、单中心，并且在两条臂的RBG显带中不对称，这表明每条臂中DNA合成的时间顺序不同。在之前报道的7例病例中，血浆睾酮水平在有指征时总是低于正常水平；而我们的患者血浆睾酮水平正常（650 ng/100 ml），其男性化也正常。因此，对于患有KS且额外有一条Xq的患者，睾酮水平不一定更低。此外，有或没有i(Xq)的KS患者在身高上的显著差异令人瞩目。看来，Xq等臂染色体克兰费尔特综合征肯定有可能与身高增长不足有关。
