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您所在的位置:首頁 > 神經(jīng)內(nèi)科診療指南 > 證據(jù)報告:兒童全身性發(fā)育遲緩的基因和代謝檢測

證據(jù)報告:兒童全身性發(fā)育遲緩的基因和代謝檢測

2013-09-02 11:31 閱讀:1705 來源:愛愛醫(yī)資源網(wǎng) 責任編輯:愛愛醫(yī)資源
[導讀] 《證據(jù)報告:兒童全身性發(fā)育遲緩的基因和代謝檢測》內(nèi)容預覽 Methods: Relevant literature was reviewed, abstracted, and classified according to the 4-tiered American Academy of Neurology classification of evidence scheme. Results and Conclusio

《證據(jù)報告:兒童全身性發(fā)育遲緩的基因和代謝檢測》內(nèi)容預覽

Methods: Relevant literature was reviewed, abstracted, and classified according to the 4-tiered American Academy of Neurology classification of evidence scheme.

Results and Conclusions: In patients with GDD/ID, microarray testing is diagnostic on average in 7.8% (Class III), G-banded karyotyping is abnormal in at least 4% (Class II and III), and subtelo-meric fluorescence in situ hybridization is positive in 3.5% (Class I, II, and III). Testing for X-linked ID genes has a yield of up to 42% in males with an appropriate family history (Class III). FMR1 testing shows full expansion in at least 2% of patients with mild to moderate GDD/ID (Class II and III), and MeCP2 testing is diagnostic in 1.5% of females with moderate to severe GDD/ID (Class III). Tests for metabolic disorders have a yield of up to 5%, and tests for congenital disorders of glycosylation and cerebral creatine disorders have yields of up to 2.8% (Class III). Several genetic and metabolic screening tests have been shown to have a better than 1% diagnostic yield in selected populations of children with GDD/ID. These values should be among the many factors considered in planning the laboratory evaluation of such children.

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