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  • Title: [Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome].
    Author: Wu D, Li T, Wang H, Shi W, Hou Q, Zhang H, Wang T, Yang Y, Liao S.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Dec 10; 34(6):849-852. PubMed ID: 29188614.
    Abstract:
    OBJECTIVE: To determine the origin of chromosomal aberration in a boy with mental retardation and multiple congenital malformations. METHODS: The karotypes of the proband and his parents were analyzed with conventional G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH). RESULTS: No karyotypic abnormality was detected in the proband and his parents. aCGH has identified a de novo 405 kb deletion at 9q34.3 in the proband, which encompassed the EHMT1 gene and part of CACNA1B gene. CONCLUSION: The de novo 9q34.3 deletion probably underlies the mental retardation and development delay in the boy. EHMT1 may be one of the key genes responsible for 9q34.3 microdeletion syndrome.
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