Peter J B Sabatini Resham Ejaz Dimitri J Stavropoulos Roberto Mendoza-Londono Ann M Joseph-George
10.1186/s13039-018-0394-0
Mol Cytogenet
2018 Aug 28;11:50.
chromoanagenesis chromoanasynthesis familial transmission syngap1
CC BY
https://pubmed.ncbi.nlm.nih.gov/30181777/
Case Reports
PMC6114485
30181777
Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant
2018