2006AAP兒童精神發(fā)育遲滯或發(fā)育遲緩的臨床遺傳評估
《2006AAP兒童精神發(fā)育遲滯或發(fā)育遲緩的臨床遺傳評估》內(nèi)容簡介：
This clinical report describes the clinical genetic evaluation of the child withdevelopmental delays or mental retardation. The purpose of this report is todescribe the optimal clinical genetics diagnostic evaluation to assist pediatricians inproviding a medical home for children with developmental delays or mentalretardation and their families.
《2006AAP兒童精神發(fā)育遲滯或發(fā)育遲緩的臨床遺傳評估》內(nèi)容預覽：
This clinical report describes the clinical genetic evaluation of the child withdevelopmental delays or mental retardation. The purpose of this report is todescribe the optimal clinical genetics diagnostic evaluation to assist pediatricians inproviding a medical home for children with developmental delays or mentalretardation and their families. The literature supports the benefit of expert clinicaljudgment by a consulting clinical geneticist in the diagnostic evaluation. However,it is recognized that local factors may preclude this particular option. No singleapproach to the diagnostic process is supported by the literature. This reportaddresses the diagnostic importance of clinical history, 3-generation family his-tory, dysmorphologic examination, neurologic examination, chromosome **ysis（ 650 bands）， fragile X molecular genetic testing, fluorescence in situ hybridiza-tion studies for subtelomere chromosome rearrangements, molecular genetic test-ing for typical and atypical presentations of known syndromes, computed tomog-raphy and/or magnetic resonance brain imaging, and targeted studies formetabolic disorders.
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