Neural tube defects in trisomy 18 |
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Authors: | Rachel Nisani Juan Chemke Hana Cohen-Ankori Florens Nissim |
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Affiliation: | 1. Clinical Genetics Unit (affiliated to the Hebrew University & Hadassah Medical School);2. Department of Pathology, Kaplan Hospital, Rehovot (affiliated to the Hebrew University & Hadassah Medical School);3. Cytogenetics Laboratory, Central Emek Hospital, Afula, Israel |
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Abstract: | Central nervous system anomalies in trisomy 18 are usually confined to structural abnormalities of brain development. Despite the recognized association of neural tube defects and trisomy 18, primary (true) anencephaly is uncommon in the classical trisomy 18 phenotype. A case of anencephaly with trisomy 18, diagnosed prenatally, is presented with a review of the literature of this association. |
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Keywords: | Anencephaly Neural tube defects Trisomy 18 |
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