English  |  正體中文  |  简体中文  |  Items with full text/Total items : 90120/105278 (86%)
Visitors : 8949724      Online Users : 232
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
Scope Tips:
  • please add "double quotation mark" for query phrases to get precise results
  • please goto advance search for comprehansive author search
  • Adv. Search
    HomeLoginUploadHelpAboutAdminister Goto mobile version


    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/111672


    Title: A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
    Authors: 陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;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;Wang, Wayseen;Wang, Wayseen
    Contributors: 生物科技學系
    Date: 2018-08
    Issue Date: 2018-12-25 10:31:23 (UTC+8)
    Abstract: Objective
    We report a 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features.

    Case report
    A 13-year-old girl was referred for genetic counseling of Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. The girl also had mild intellectual disability, psychomotor developmental delay, speech disorder, high-arched palate, hypertelorism and mid-face hypoplasia. Cytogenetic analysis of the girl revealed a karyotype of 46,XX,del(18) (p11.2). The parental karyotypes were normal. Array comparative genomic hybridization analysis on the DNA extracted from the peripheral blood revealed a 13.93-Mb deletion of 18p11.32-p11.21 or arr 18p11.32p11.21 (148,993–14,081,858) × 1.0 [GRCh37 (hg19)] encompassing 52 Online Mendelian Inheritance in Man (OMIM) genes including USP14 , TYMS , SMCHD1 , TGIF1 , LAMA1 , TWSG1 , GNAL and PTPN2 . Polymorphic DNA marker analysis revealed a maternal origin of the deletion.

    Conclusion
    Females with Turner syndrome-like clinical features in association with intellectual disability, facial dysmorphism and psychomotor developmental delay should be suspected of having chromosome deletion syndromes.
    Relation: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
    Appears in Collections:[生物科技學系] 期刊論文

    Files in This Item:

    File SizeFormat
    index.html0KbHTML67View/Open


    All items in ASIAIR are protected by copyright, with all rights reserved.


    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - Feedback