Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant.

Peter J B SabatiniResham EjazDimitri J StavropoulosRoberto Mendoza-LondonoAnn M Joseph-George

Published in: Molecular cytogenetics (2018)

This study indicates that complex rearrangements involving an unbalanced chromosome derived from chromoanasynthesis can be familial and should be not be presumed pathogenic.

Keyphrases

copy number
case report
early onset
dna methylation