Jesus David Sendoya Vargas, Divya Periasamy, F. Sánchez, Maria Alejandra Benavides Fierro, Ingrid Carolina Duran Palacios, R. Sidlow, Henry Ostos Alfonso
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A Small Pure 3q25.1 Duplication Associated with Multiple Cerebral Organizational Defects
Duplications of the long arm of chromosome 3 most frequently occur in the context of other chromosomal copy number variations. Pure duplications of this region are exceedingly rare, varying widely in size and clinical presentation. Presented below is a case of a small pure duplication of the long arm of chromosome 3q25.1 associated with marked cerebral organization defects and the possible genotype/phenotype correlation between the two.
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