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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16976


    Title: A de novo 4.4-Mb microdeletion in 2p24.3->p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome
    Authors: 陳持平;Chen, Chih-Ping
    Contributors: 生物科技學系
    Keywords: 2p24.3 Deletion;Cochlea;Deafness;Feingold syndrome;Hearing impairment;MYCN;N-myc
    Date: 2012-11
    Issue Date: 2012-11-23 17:19:01 (UTC+8)
    Abstract: We report a 26-month-old girl with profound hearing impairment, microcephaly, psychomotor retardation, short palpebral fissures, hypertelorism, epicanthic folds, a broad nasal bridge, anteverted nostrils, large low-set ears, micrognathia, brachymesophalangy of the second and the fifth fingers, clinodactyly of bilateral fifth fingers and a wide interdigital space between the first and the second toes, carrying a 4.4-Mb de novo microdeletion of chromosome 2p24.3 → p24.2. This region contains the genes of FAM84A, NBAS, DDX1, MYCNOS and MYCN, of which haploinsufficiency or mutations of the MYCN gene is associated with Feingold syndrome. Brain magnetic resonance imaging revealed cochlear nerve hypoplasia and internal auditory canal stenosis. Temporal bone computed tomography showed abnormal dilation of bilateral vestibular and lateral semicircular canals. The present case provides evidence that haploinsufficiency of MYCN in 2p24.3 deletion in humans can cause structural and functional abnormalities of the inner ear.
    Relation: European Journal of Medical Genetics
    Appears in Collections:[生物科技學系] 期刊論文

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