Research shows children with 16p11.2 deletion or duplication have a higher chance of having a psychiatric disorder.
In most of the trillion cells that make up our bodies, 23 pairs of chromosomes store the vital strands of DNA needed to make our bodies grow and function properly. But if the amount of genetic material within our cells is a bit too much or too little, then this can potentially interfere with normal development. It can also lead to syndromes such as Down Syndrome, 22q11.2 Deletion Syndrome—the second most common syndrome after Down—and 16p11.2 deletion or duplication syndrome.
Problems commonly associated with a 16p11.2 deletion or duplication include developmental delay, issues with gross and fine movements, and low muscle tone Epilepsy and difficulties with speech and language development have also been reported. Psychiatric disordersWe have recently published the findings of the largest study to date which examined the kind and frequency of a range of psychiatric conditions in children with 16p11.2 deletion or duplication. With the help of families from the U.K. and U.S., we studied 217 children with the deletion and 77 of their siblings without the deletion, as well as 114 children with the duplication and 32 of their siblings without the duplication.
Further research16p11.2 CNVs are relatively rare. They occur in three out of every 10,000 people. It takes a lot of time and effort to build a study with sufficient numbers of people with these rare conditions and it isn’t easy for researchers to obtain funding for such projects. To find out more about our studies of individuals with 16p11.2 deletion or duplication and other genetic conditions, please visit our website, or contact us directly at echo@cardiff.ac.uk or on +44 29 2068 8354.
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