MOLECULAR AND NEURODEVELOPMENTAL ANALYSIS OF ANEUSOMY

18号染色体长臂的一部分缺失(18q综合征) 这是影响人类的最常见的新陈代谢疾病之一。尽管它的尺寸 缺失是可变的，受影响的儿童具有共同的临床特征 例如身材矮小和智力发育迟缓。假设基于什么 这项研究的基础是，在时间上有变化 继发性中枢神经系统和周围神经系统髓鞘形成 只有一个髓鞘碱性蛋白基因的拷贝；这导致了 下丘脑垂体轴失调与脑血管紧张素转换酶分泌不足 天哪。异常的正常环境进一步延缓了髓鞘形成 加剧神经发育异常，并导致 智力低下的严重程度。这项研究的目的是 检查生长激素治疗在以下方面是否有益处 线形生长率、下丘脑/垂体功能、 中枢神经系统髓鞘形成、听力和神经发育成熟。

Deletion of a portion of the long arm of chromosome 18 (18q- syndrome) is one of the most common aneusomies to affect humans. Although the size of the deletion is variable, affected children share common clinical features such as short stature and mental retardation. The hypothesis on which this study is based is that there are alterations in the timing of myelination of central and peripheral nervous systems secondary to having only a single copy of the gene for myelin basic protein; this leads to disregulation of the hypothalamic pituitary axis and underproduction of GH. The abnormal hormal milieu further retards myelination which exacerbates neurodevelopmental abnormalities and contributes to the severity of the mental retardation. The purpose of this study is to examine whether GH treatment has beneficial effects in such as areas as the rate of linear grown, hypothalamic/pituitary function, the degree of CNS myelination, hearing, and neurodevelopmental maturation.