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[Molecular cytogenetic detection of partial chromosome 13q trisomy and its relation with the clinical features of tortilcollis]

[Molecular cytogenetic detection of partial chromosome 13q trisomy and its relation with the clinical features of tortilcollis] Research Abstract Details 

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  • [Molecular cytogenetic detection of partial chromosome 13q trisomy and its relation with the clinical features of tortilcollis] Abstract Text:

    juan duJuan Du,yue-qiu tanYue-qiu Tan,lu-yun liLu-yun Li,guang-xiu luGuang-xiu Lu,

    OBJECTIVE: To search for the possible relation between tortilcollis and partial chromosome 13q trisomy. METHODS: Fluorescence in situ hybridization (FISH) technique combined with chromosome banding was performed to determine the karyotype of two patients with typical clinical features of partial 13q trisomy syndrome, then their manifestations were compared with those of the literatures published previously. RESULTS: The two cases were partial trisomy of 13q14--> ter with a different second derivative chromosome, in spite of this difference, both of them had tortilcollis. CONCLUSION: It is suggested that a potential site for tortilcollis may locate on the long arm of chromosome 13. With reference to a report previously published, the more precise candidate related region may be 13q32--> qter.

    [Molecular cytogenetic detection of partial chromosome 13q trisomy and its relation with the clinical features of tortilcollis] Publishing Authors By Initials

    j duJ Du,yq tanYQ Tan,ly liLY Li,gx luGX Lu,

    For similar abstracts research abstracts see: abstracts research

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    [Molecular cytogenetic detection of partial chromosome 13q trisomy and its relation with the clinical features of tortilcollis] Journal Published:

    PUBLICATION TYPE: Journal Article

    Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yix

    VOLUME: 20

    Page Numbers: 189-92

    Journal Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Z

    ISSN: 1003-9406

    DAY: 2

    MONTH: Jun

    YEAR: 2003

    [Molecular cytogenetic detection of partial chromosome 13q trisomy and its relation with the clinical features of tortilcollis] Information

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    LANGUAGE: chi

    NlmUniqueID: 9425197

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    Grant and Affiliation Information for [Molecular cytogenetic detection of partial chromosome 13q trisomy and its relation with the clinical features of tortilcollis]

    AFFILIATION: Human Reproductive Engineering Laboratory, Xiangya School of Medicine, Central South University, Changsha, Hunan, 410078 PR China.

    Country: China

    China Research PublicationChina Research Publication

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    MEDLINETA: Zhonghua Yi Xue Yi Chuan Xue Z

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