ASIA unversity:Item 310904400/16491
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    题名: Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3->pter) and partial monosomy 13q (13q33.3->qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly
    作者: 陳持平;Chen, Chih-Ping;Chen, Ming;Su, Yi-Ning;Tsai, Fuu-Jen;Chern, Schu-Rern;Hsu, Chin-Yuan;Wu, Pei-Chen;Town, Dai-Dyi;Lee, Dong-Jay;Ma, Gwo-Chin;Wang, Wayseen
    贡献者: 生物科技學系
    关键词: chromosome 7;chromosome 13;Dandy-Walker malformation;monosomy 13q;microcephaly;trisomy 7p
    日期: 2010-09
    上传时间: 2012-11-23 17:13:48 (UTC+8)
    摘要: "Objective
    To present the prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation (DWM), abnormal skull development, microcephaly and multiple congenital anomalies.

    Materials, Methods and Results
    A 42-year-old woman, gravida 6, para 1, was referred for amniocentesis at 18 weeks of gestation because of her advanced maternal age. Amniocentesis revealed an aberrant derivative chromosome 13, or der(13). The parental karyotypes were normal. Spectral karyotyping showed that the der(13) was derived from a translocation of chromosomes 7 and 13. Fluorescence in situ hybridization using subtelomeric probes revealed three signals of 7pTEL and only one signal of 13qTEL, indicating a translocation between 7p and 13q in the der(13). Array-based comparative genomic hybridization demonstrated partial trisomy 7p (7p15.3-p22.3) and partial monosomy 13q (13q33.3-q34). The karyotype was 46,XY,der(13)t(7;13)(p15.3;q33.3). Polymorphic DNA marker analysis revealed the paternal origin of the aberrant chromosome. Level II ultrasound at 24 weeks of gestation revealed microcephaly, an irregular-shaped skull, DWM, nuchal edema and transposition of the great arteries.

    Conclusion
    Spectral karyotyping, fluorescence in situ hybridization and array-based comparative genomic hybridization are useful for prenatal investigation of the nature of a de novo aberrant derivative chromosome. Partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) can be associated with DWM, microcephaly, abnormal skull development, nuchal edema and cardiovascular defects on prenatal ultrasound.
    關聯: Taiwanese Journal of Obstetrics & Gynecology
    显示于类别:[生物科技學系] 期刊論文

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