PhelanMcDermidszindróma
Phelan McDermid syndrome is a rare genetic disorder caused by a deletion of genetic material on the X chromosome. Specifically, it is a microdeletion on the long arm of the X chromosome, designated as Xq22.3. This deletion typically encompasses multiple genes, with the SHANK3 gene being considered a key player in the syndrome's characteristics. The severity and specific symptoms can vary widely among affected individuals due to the differing size and precise location of the deletion, as well as the specific genes involved.
Common features of Phelan McDermid syndrome can include intellectual disability, developmental delay, and absent or delayed
Diagnosis is typically made through genetic testing, such as chromosomal microarray analysis or fluorescence in situ