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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/111671


    Title: Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability
    Authors: 陳持平;Chen, Chih-Ping;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Chen, Wen-Lin;Chen, Wen-Lin;Ya, Chien-Wen;Yang, Chien-Wen;Wang, Wayseen;Wang, Wayseen
    Contributors: 生物科技學系
    Date: 2018-08
    Issue Date: 2018-12-25 10:31:18 (UTC+8)
    Abstract: Objective
    We present prenatal diagnosis of a 2p16.1-p15 duplication associated with familial intellectual disability, and we discuss the genotype–phenotype correlation.

    Case report
    A 22-year-old, primigravid woman underwent amniocentesis at 22 weeks of gestation because of a family history of intellectual disability. The woman and her two sisters had intellectual disability but no behavioral disorders. The intellectual disability was noted in at least one paternal aunt and six paternal cousins of the woman. Cytogenetic analysis revealed the karyotype of 46,XX in the fetus and the two women. Array comparative genomic hybridization (aCGH) analysis on the DNAs extracted from cultured amniocytes and the bloods of the woman and the her sister revealed a 3.244-Mb duplication of 2p16.1-p15 or arr 2p16.1p15 (58,288,588–61,532,538) × 3.0 [GRCh37 (hg19)] encompassing eight Online Mendelian Inheritance in Man (OMIM) genes of VRK2, FANCL, BCL11A, PAPOLG, REL, PUS10, PEX13 and USP34 in the fetus and the two women. Prenatal ultrasound findings were unremarkable. The woman elected to continue the pregnancy. A 3244-g female baby was delivered at term with neither craniofacial dysmorphism nor structural abnormalities.

    Conclusion
    aCGH is useful in prenatal diagnosis of inherited subtle chromosome imbalance in pregnancy with familial intellectual disability. Chromosome 2p16.1-p15 duplication can be associated with intellectual disability.
    Relation: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
    Appears in Collections:[生物科技學系] 期刊論文

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