Road to A Rare Diagnosis: A Case Report Exploring Phenotype, Clinical Management and Outcome of a Rare and Novel Unbalanced Translocation causing complete Trisomy 17p
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Abstract
Background: Trisomy 17 is a rare chromosomal disorder with limited existing literature that mostly refer to mosaic Trisomy 17 cases. Our report summarizes the clinical course of a neonate with a Trisomy 17 karyotype der (14;17) (q10; p10), + 17 pat. Key words: Trisomy 17, Unbalanced translocation, Paternal origin
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- last seen: 2026-05-19T01:45:01.086888+00:00