Complete Trisomy 22

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!

CLINICAL FEATURES MAY INCLUDE:

• microcephaly
• abnormal ears
• webbed neck
• cardiac abnormalities
• long fingers
• kidney problems (missing, extra, or underdeveloped kidneys)
• growth retardation
• cleft palate/lip
• mental delay
• flat nasal bridge
• excess neck skin
• hypospadias
• anal stenosis
• clinodactyly of fifth fingers
• abnormal finger/toe nails
• cyanosis
• preauricular pits/tags
• preauricular sinus
• imperforate anus/rectal abnormalities
• rocker bottom feet
• finger like thumbs
• epicanthal folds
• vascular malformations
• gastrointestinal malformations
• seizures
• hypotonia