This is an Open Access article which permits unrestricted noncommercial use, provided the original work is properly cited. This article has been cited by other articles in PMC. Its behavioral phenotype comprises sleep disturbances, communication deficits, and motor perseverations. Data on psychological dysfunctions are so far not available. Previous studies have suggested that the loss of one copy of the gene SH3 and multiple ankyrin repeat domains 3 SHANK3 is related to the neurobehavioral phenotype. Additional genes proximal to SHANK3 are also likely to play a role in the phenotype of patients with larger deletions.
What is Phelan-McDermid Syndrome? | PMSF | Phelan-McDermid Syndrome Foundation
The 22q13 deletion is often so small that it can only be identified using array-CGH , a very detailed type of chromosomal analysis. Such a deletion could not be identified by the older methods of microscopic chromosome analysis. We therefore expect that there are many adult patients still to be diagnosed, and that the number of adults with this diagnosis will increase every year. Research on adults with a 22q13 deletion There is still too little known about the health, development, behaviour and functioning of adults with Phelan-McDermid syndrome.
As the research progresses, the science advances, the descriptions will continue to change; the Foundation will continue to monitor and participate in the full characterization of Phelan-McDermid Syndrome over time and will evolve as the syndrome is further described by the scientific community. Therefore, any family with a genetic report showing a pathogenic mutation of SHANK3 or deletion on the 22q13 region of chromosome 22 is encouraged to join the Phelan-McDermid Syndrome Foundation membership. The genetic changes that cause PMS vary from person to person and can occur randomly de novo or be inherited from a parent who carries a related genetic change.
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