What is the prognosis & life expectancy for 5p- syndrome?

.The outlook for most children with 5p- syndrome is variable. The size and location of the deletion of chromosome 5, environment and early interventional are factors that play a role in your child’s prognosis. The critical region for 5p- syndrome is located on 5p15.2. Majority of our individuals with 5p- syndrome live with a terminal deletion. And, majority of the terminal deletions have 5p15.2 deleted. The cases of individuals with smaller deletions starting at 5p15.3 have a milder phenotype. Some 5p- syndrome individuals live with an additional duplication and the chromosome location varies. Duplications can result in additional complications depending on location.  5p- deletions are most commonly de novo or random in occurrence, which are paternal in origin 80-90% of cases, possibly arising from chromosome breakage during gamete formation in males. Ten to fifteen percent are the result of an unbalance parental translocation.

 Prognosis can be positively impacted by an environment that is rich in life-long nourishment, stimulation and surrounded with caregivers who have high expectations for their loved one living with 5p- syndrome. Generally speaking, life expectancy is considered normal.

 Nguyen, 2015 10.1002/ajmg.c.31444