Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

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 of clinical features consist...

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Bibliographic Details
Main Authors: Christopher M. Grochowski, Ana C. V. Krepischi, Jesper Eisfeldt, Haowei Du, Debora R. Bertola, Danyllo Oliveira, Silvia S. Costa, James R. Lupski, Anna Lindstrand, Claudia M. B. Carvalho
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Genetics
Subjects:
genomic inversions
structural variation
complex genomic rearrangement (CGR)
chromothripsis
chromoplexy
microhomology-mediated break-induced replication (MMBIR)
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.708348/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.708348/full

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