ASIA unversity:Item 310904400/108125
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    题名: Detection of mosaic 15q11.1-q11.2 deletion encompassing NBEAP1 and POTEB in a fetus with diffuse lymphangiomatosis
    作者: 陳持平;Chih-Ping Chen;Kuo-Gon Wang;Hsu-Kuang Hu;Hsu-Kuang Huang;Cheng-Ran Pe;Cheng-Ran Peng;Schu-Rern Ch;Schu-Rern Chern;Peih-Shan Wu;Yen-Ni Chen;Shin-Wen Che;Shin-Wen Chen;Chen-Chi Lee;Wayseen Wang
    贡献者: 生物科技學系
    日期: 2017-04
    上传时间: 2017-10-30 10:39:14 (UTC+8)
    摘要: Objective

    We present cytogenetic and molecular cytogenetic diagnoses of mosaic deletion of chromosome 15q11.1-q11.2 in a fetus with diffuse lymphangiomatosis.

    Case Report

    A 33-year-old woman underwent amniocentesis at 22 weeks of gestation because of fetal diffuse lymphangiomatosis involving left-side chest, abdominal cavity, thigh and vulva, and intrauterine growth restriction. Amniocentesis revealed a karyotype of 46,XX,del(15) (q11.1q11.2)[9]/46,XX[26]. The mother had a karyotype of 46,XX. The father had a karyotype of 46,XY. The parents elected to terminate the pregnancy. A 610-g female fetus was delivered at 23 weeks of gestation with large cystic lymphangioma over the left abdomen, thigh, and vulva. The umbilical cord had a karyotype of 46,XX,del(15)(q11.1q11.2)[24]/ 46,XX[16]. The placental tissue had a karyotype of 46,XX,del(15)(q11.1q11.2)[23]/ 46,XX[17]. Array comparative genomic hybridization analysis of the umbilical cord and placenta revealed a 2.42-Mb deletion of 15q11.1-q11.2 encompassing the genes of NBEAP1 and POTEB.
    Conclusion

    Deletion of 15q11.1-q11.2 encompassing NBEAP1 and POTEB may be associated with diffuse lymphangiomatosis.
    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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