Complete
trisomy 22 occurs when an extra (third) copy of chromosome 22 is
present in every cell of the body, where there should normally
only be two copies. Cases of complete (or full) trisomy 22 are
very rare. Most affected individuals with complete trisomy 22
die before or shortly after birth due to severe birth defects.
Complete trisomy 22 is the second most common finding in
miscarriages after trisomy 16. Survival beyond the first
trimester of gestation is very rare.
Early reports of complete trisomy 22 are thought to represent unbalanced translocation 11/22 (Emanuel Syndrome) or mosaicism, as full trisomy 22 is thought to be lethal in early stages. The syndrome causes severe malformations. Despite the poor prognosis for this syndrome, we do know of Natalin - we love you sweetheart!
Affiliate member, Canadian Organization for Rare Disorders