MOLECULAR AND NEURODEVELOPMENTAL ANALYSIS OF ANEUSOMY 18q SYNDROME

18号染色体长臂的一部分缺失（18 q综合征）是影响人类的最常见的染色体异常之一。 虽然缺失的大小是可变的，但受影响的儿童具有共同的临床特征，如身材矮小和智力迟钝。 这项研究所基于的假设是，中枢和外周神经系统髓鞘形成的时间发生了改变，这是由于髓鞘碱性蛋白基因只有一个拷贝;这导致了下丘脑垂体轴的失调和GH的产生不足。异常的激素环境进一步延迟髓鞘形成，这加剧了神经发育异常并导致智力迟钝的严重性。 本研究的目的是检查GH治疗是否在线性生长率、下丘脑/垂体功能、CNS髓鞘形成程度、听力和神经发育成熟等方面具有有益作用。

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 hormonal 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 areas as the rate of linear growth, hypothalamic/pituitary function, the degree of CNS myelination, hearing, and neurodevelopmental maturation.