SNP array and cytogenetic analysis of a patient with unexplained mental retardation北大核心CSCD

Objective: To analyze a patient with unexplained mental retardation by using three primer PCR(TP-PCR) and single nucleotide polymorphisms array(SNP-array), and to correlate the genotype with phenotype. Methods: Peripheral blood sample was taken from the patient for the extraction of DNA. TP-PCR was used to determine the copy number of CGG repeats in the 5′-UTR of the FMR1 gene. SNP array was used for high resolution analysis of the patient's genome. Results: TP-PCR has shown no abnormal amplification of CGG in the 5′-UTR of FMR1 gene. Hence, Fragile X syndrome was excluded as the cause for mental retardation. SNP array analysis has identified a 0.93 Mb duplication at 7q36.1-q36.2 and a 2.2 Mb deletion at 12p13.1-p13.2 in the patient. Conclusion: The microduplication and microdeletion discovered in the patient probably underlies the intelligence disability. The high-resolution SNP array can provide accurate information for the identification of pathogenesis, and is the preferred method for the diagnosis of unexplained mental retardation. © 2016, West China University of Medical Sciences. All rights reserved.