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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/8326


    Title: A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay
    Authors: Chen, CP (Chen, Chih-Ping);Lin, SP (Lin, Shuan-Pei);Tsai, FJ (Tsai, Fuu-Jen);Chern, SR (Chern, Schu-Rern);Lee, CC (Lee, Chen-Chi);Wang, W (Wang, Wayseen)
    Contributors: Department of Biotechnology
    Keywords: interstitial 15q deletion;15q14;cleft palate;epilepsy;ventricular septal defect;mental retardation;developmental delay;array-CGH;CHRNA7;ACTC;JUVENILE MYOCLONIC EPILEPSY;MAJOR SUSCEPTIBILITY LOCUS;INTERSTITIAL DELETION;CHROMOSOME 15Q14
    Date: 2008-07
    Issue Date: 2010-03-26 10:29:50 (UTC+8)
    Publisher: Asia University
    Abstract: We report a male patient with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay. Characteristic facial features include low-set ears, a beak-like nose, a prominent nasal bridge, a long philtrum, a narrow forehead, a long face, a pointed chin and dental position abnormalities. Array-comparative genomic hybridization (CGH) analysis demonstrated the presence of a 5.6-Mb deletion in 15q14 (chromosome 15: 3,18,33,000-3,74,77,000 bp). The present case provides the evidence that 15q14 deletion outside the region encompassing the CHRNA7 gene can cause generalized epilepsy, and a locus in 15q14 is associated with speech and language disorder. (C) 2008 Elsevier Masson SAS. All rights reserved.
    Relation: EUROPEAN JOURNAL OF MEDICAL GENETICS, 51 (4): 368-372
    Appears in Collections:[生物科技學系] 期刊論文

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