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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16723

    Title: De novo duplication Xq22.1->q24 with a disruption of the NXF geen cluster in a mentally retarded woman with short stature and premature ovarian failure
    Authors: 陳持平;Chen, Chih-Ping
    Contributors: 生物科技學系
    Keywords: Duplication of Xq;Mental retardation;NXF gene cluster;PGRMC1;Premature ovarian failure
    Date: 2011-09
    Issue Date: 2012-11-23 17:16:18 (UTC+8)
    Abstract: A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, short stature, low body weight, general muscle hypotonia, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of Pelizaeus-Merzbacher disease. Conventional cytogenetic analysis revealed a karyotype of 46,X,dup(X)(q22.1q24). Fluorescence in situ hybridization determined a direct duplication with a linear tandem orientation. Array comparative genomic hybridization demonstrated partial trisomy Xq [arr cgh Xq22.1q24 (101,490,234–119,070,188 bp)×3] with a 17.6-Mb duplication.
    Relation: Taiwanese Journal of Obstetrics & Gynecology
    Appears in Collections:[生物科技學系] 期刊論文

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