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Solving the Puzzle: Case Examples of Array Comparative Genomic Hybridization as a Tool to End the Diagnostic Odyssey

CURRENT PROBLEMS IN PEDIATRIC AND ADOLESCENT HEALTH CARE (2012)

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CURRENT PROBLEMS IN PEDIATRIC AND ADOLESCENT HEALTH CARE

卷 42, 期 3, 页码 74-78

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ELSEVIER SCIENCE INC

DOI: 10.1016/j.cppeds.2011.10.003

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Pediatrics

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We review 3 cases where array comparative genomic hybridization made a difference in the medical management of the patient, ended the diagnostic odyssey, predicted prognosis for the patient, and/or provided closure to the family. Comparative genomic hybridization is a useful tool for testing individuals with clinical examinations suggestive of a genetic syndrome but in which a specific syndrome may be difficul pinpoint. The cost is similar to that of a standard karyotype there is a higher yield in children and adults with clinical si, of a genetic syndrome. Curr Probl Pediatr Adolesc Health Care 2012;42:74-78

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