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  • Title: Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation.
    Author: Işik U, Başaran S, Dehgan T, Apak M.
    Journal: Pediatr Neurol; 2008 Jul; 39(1):55-7. PubMed ID: 18555175.
    Abstract:
    We report on a 3-year-old boy with partial trisomy 8 p11.23-->pter and partial monosomy 4q34-->qter, associated with developmental delay, complete agenesis of the corpus callosum, and mild dysmorphic features. Although agenesis of the corpus callosum is not a rare finding among chromosomal abnormalities, partial trisomy 8p together with partial monosomy 4q, resulting from a maternal translocation, was not previously reported, to the best of our knowledge.
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