Donlan M A, Dolan C R, Metcalf M J, Bradley C M, Salk D
Am J Med Genet. 1987 May;27(1):189-94. doi: 10.1002/ajmg.1320270120.
We report on a male with trisomy Xq resulting from an isochromosome Xq which is preferentially inactivated: 47,XY,+i(Xq). Six previous cases have been reported. These patients are similar to patients with classical Klinefelter syndrome (47,XXY) in that they have infertility, decreased masculinization, gynecomastia, and elevated luteinizing hormone (LH) and follide stimulating hormone (FSH) levels. They may differ in having average intelligence and normal to short stature. These findings indicate that extra copies of the long arm of X have phenotypic expression, even though activated only in early development.
我们报告了一名男性患者，其Xq三体源于一条等臂染色体Xq，该等臂染色体优先失活：47,XY,+i(Xq)。此前已报道过6例此类病例。这些患者与经典克氏综合征（47,XXY）患者相似，表现为不育、男性化程度降低、乳腺增生以及黄体生成素（LH）和卵泡刺激素（FSH）水平升高。他们的不同之处可能在于平均智力正常以及身材正常至矮小。这些发现表明，即便X染色体长臂的额外拷贝仅在早期发育中被激活，也具有表型表达。
