MOLECULAR AND NEURODEVELOPMENTAL ANALYSIS OF ANEUSOMY 18q SYNDROME

18号染色体长臂部分缺失（18q-综合征）是影响人类最常见的畸形之一。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。这项研究基于的假设是，中枢和周围神经系统的髓鞘形成时间发生改变，继发于髓鞘碱性蛋白基因的单一拷贝；这导致下丘脑垂体轴的失调和生长激素的分泌不足。异常的激素环境进一步延缓髓鞘形成，从而加剧神经发育异常，并导致智力发育迟缓的严重程度。本研究的目的是研究生长激素治疗是否对线性生长速度、下丘脑/垂体功能、中枢神经鞘化程度、听力和神经发育成熟等方面有有益影响。

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.