Ogata T, Matsuo N
Human Molecular Genetics Laboratory, Imperial Cancer Research Fund, London, UK.
Hum Genet. 1993 Jul;91(6):551-62. doi: 10.1007/BF00205079.
Although sex chromosome aberrations are frequently associated with statural changes, the underlying factors have not been clarified. To define the factors leading to the statural changes, we took the following three steps: (1) determination of the mean adult height in nonmosaic Caucasian patients with sex chromosome aberrations reported in the literature (assessment of genetic height potential); (2) assessment of the validity of factors that could influence stature; and (3) correlation of the mean adult height with the effects of specific growth-related factors. The results indicate that the adult height in patients with sex chromosome aberrations may primarily be defined by the dosage effect of pseudoautosomal and Y-specific growth genes, together with the degree of growth disadvantage caused by alteration of the quantity of euchromatic or non-inactivated region.
尽管性染色体畸变常常与身高变化相关，但潜在因素尚未明确。为了确定导致身高变化的因素，我们采取了以下三个步骤：（1）确定文献中报道的非嵌合型白种人性染色体畸变患者的平均成年身高（评估遗传身高潜力）；（2）评估可能影响身高的因素的有效性；（3）将平均成年身高与特定生长相关因素的影响进行关联分析。结果表明，性染色体畸变患者的成年身高可能主要由假常染色体和Y特异性生长基因的剂量效应，以及常染色质或非失活区域数量改变所导致的生长劣势程度来决定。
