Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome
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DOI: 10.3389/fgene.2021.708348
Abstract: Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes that generate localized and complex chromosome rearrangements in both somatic and germline genomes. Herein, we describe a 5-year-old female presenting with a constellation… read more here.
Keywords: single chromosome; chromoanagenesis event; coffin siris; siris syndrome ... See more keywords