Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism |
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| Authors: | B Eiben M Unger G Stoltenberg G Rutt R Goebel A Meyer U Gamerdinger W Hammans S Hansen H Hauss M Vogel G Schwanitz |
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| Institution: | 1. Abt. Paidopathologie and Placentologie des Universitäts-klinikum Rudolf Virchow, Germany;2. Institut für Neuropathologie der Freien Universität Berlin, Germany;3. Frauenklinik Evangelisches Krankenhaus Oberhausen, Germany;4. Insritut für Humangenetik der Universität Bonn, Germany;5. Institut für Klinische Genetik, Germany |
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| Abstract: | The case of monosomy 18/ring chromosome 18 mosaicism which was detected prenatally by amniocentesis is presented. The pregnancy was terminated in week 18. Autopsy showed complex malformation of the fetus consisting of cebocephaly, hypotelorism, microphthalmia, severe defects of brain development, and arrest of placental maturation. |
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| Keywords: | Mosaicism Monosomy 18 Ring chromsome 18 Holoprosencephaly |
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