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3q29 microduplication syndrome: New evidence for the refinement of the critical region

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The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving a genomic region ranging from 1.6 to 1.76 Mb. A small microduplication of… Click to show full abstract

The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving a genomic region ranging from 1.6 to 1.76 Mb. A small microduplication of 448.8 Kb containing only two genes was recently described in a patient with a 3q29 microduplication that was proposed as the minimal critical region of overlap of this syndrome.

Keywords: syndrome new; microduplication syndrome; microduplication; critical region; 3q29 microduplication

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2023

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