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Neural tube defects in trisomy 18
Authors:Rachel Nisani  Juan Chemke  Hana Cohen-Ankori  Florens Nissim
Institution: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
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.
Keywords:Anencephaly  Neural tube defects  Trisomy 18
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