Clinical genetic evaluation of the child with mental retardation or developmental delays
Clinical genetic evaluation of the child with mental retardation or developmental delays
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DOI：
10.1542/peds.2006-1006
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发表时间：
2006-06-01
期刊：
影响因子：
8
通讯作者：
Shevell, Michael
中科院分区：
文献类型：
--
作者：
Moeschler, John B.;Shevell, Michael
这份临床报告描述了发育迟缓或智力低下儿童的临床遗传学评估。这份报告的目的是描述最佳的临床遗传学诊断评估，以帮助儿科医生为发育迟缓或精神发育迟缓的儿童及其家人提供医疗之家。文献支持在诊断评估中咨询临床遗传学家的专家临床判断的益处。然而，人们认识到，当地因素可能会排除这一特殊选择。没有一种单一的诊断方法得到文献的支持。这份报告阐述了临床病史、3代家族史、畸形检查、神经学检查、染色体分析(=650条)、脆性X分子遗传检测、端粒下染色体重排的荧光原位杂交研究、已知症状的典型和非典型表现的分子遗传检测、计算机断层扫描和/或磁共振脑成像以及代谢性疾病的靶向研究的诊断重要性。
This clinical report describes the clinical genetic evaluation of the child with developmental delays or mental retardation. The purpose of this report is to describe the optimal clinical genetics diagnostic evaluation to assist pediatricians in providing a medical home for children with developmental delays or mental retardation and their families. The literature supports the benefit of expert clinical judgment by a consulting clinical geneticist in the diagnostic evaluation. However, it is recognized that local factors may preclude this particular option. No single approach to the diagnostic process is supported by the literature. This report addresses the diagnostic importance of clinical history, 3-generation family history, dysmorphologic examination, neurologic examination, chromosome analysis (>= 650 bands), fragile X molecular genetic testing, fluorescence in situ hybridization studies for subtelomere chromosome rearrangements, molecular genetic testing for typical and atypical presentations of known syndromes, computed tomography and/or magnetic resonance brain imaging, and targeted studies for metabolic disorders.