國家衛生研究院 NHRI:Item 3990099045/3151
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    題名: Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion
    作者: Fang, JS;Lee, KF;Huang, CT;Syu, CL;Yang, KJ;Wang, LH;Liao, DL;Chen, CH
    貢獻者: Division of Mental Health and Substance Abuse Research
    摘要: Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (cat cry syndrome), which is characterized by a cat-like cry in infancy, facial dysmorphism, microcephaly, and mental retardation. There is a high degree of variation in clinical presentations of patients with cri-du-chat syndrome, which is usually associated with different sizes and locations of deletions in chromosome 5p. Most patients with a 5p deletion have de novo mutations; familial 5p deletion is rare in literature. Here, we report a three-generation family with a 5p terminal deletion. The terminal 5p deletion (5p15.2-pter) in this family was confirmed and characterized by karyotyping analysis, fluorescent in situ hybridization, array comparative genome hybridization, and quantitative polymerase chain reaction. Although the affected family members apparently share deletions of the same size, there are some variations in mental symptoms within this family. Two affected females manifest moderate mental retardation and psychotic symptoms such as delusion of persecution, auditory hallucination, self-talking, and self-laughing, which are rare in cri-du-chat syndrome. In contrast, the other three affected males express mild-to-moderate mental retardation but no psychotic symptoms. Our study suggests that other factors besides the size and location of 5p deletions may modify the mental presentations of patients with 5p deletions.
    關鍵詞: Genetics & Heredity
    日期: 2008-06
    關聯: Clinical Genetics. 2008 Jun;73(6):585-590.
    Link to: http://dx.doi.org/10.1111/j.1399-0004.2008.00995.x
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0009-9163&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000255819000012
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=43449089496
    顯示於類別:[陳嘉祥(2009-2013)] 期刊論文
    [廖定烈(2005-2008)] 期刊論文

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