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    Title: Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p ;20p12-p13 encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome
    Authors: 陳持平;Chih-Ping Chen;Chang-Sheng;Chang-Sheng Yin;Liang-Kai Wa;Liang-Kai Wang;Schu-Rern Ch;Schu-Rern Chern;Shin-Wen Che;Shin-Wen Chen;Shih-Ting La;Shih-Ting Lai;Peih-Shan Wu;Wen-Lin Chen;Wayseen Wang
    Contributors: 生物科技學系
    Date: 2017-06
    Issue Date: 2017-10-30 10:38:33 (UTC+8)
    Abstract: Objective

    We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of chromosome 20p (20p12-p13) and a literature review of prenatal diagnosis of Alagille syndrome (ALGS).

    Case report

    A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal result of combined first-trimester screening. Her husband was 35 years old, and there was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(20)(p12p13), and array comparative genomic hybridization analysis on uncultured amniocytes revealed a 3.749-Mb deletion at 20p13-p12.3 and a 1.84-Mb deletion at 20p12.2 encompassing the gene of JAG1. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. The fetus postnatally manifested characteristic facial features of ALGS. Postnatal molecular cytogenetic analysis of fetal tissues confirmed the prenatal diagnosis. Polymorphic DNA marker analysis revealed a paternal origin of the deletion.

    Conclusion

    A de novo interstitial 20p deletion can be caused by a paternal effect. Pregnancy with a fetus affected with ALGS may be associated with an abnormal result of combined first-trimester screening and manifest no detectable ultrasound abnormalities.
    Relation: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
    Appears in Collections:[Department of Biotechnology] Journal Article

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