Case report of an adult woman with Phelan-McDermid-Syndrome

Suh, J. (2024). Case report of an adult woman with Phelan-McDermid-Syndrome (Version 1) [DataSet]. GestaltMatcher Database.

We present the case of a 41-year-old woman with a history of global developmental delay, intellectual disability, microcephaly (head circumference 52.5 cm), and left eye exotropia. Since her early 30s, she has experienced episodes of unexplained confusion. Cranial MRI revealed mild cortical and subcortical atrophy, predominantly in the frontal and temporal lobes. Extended copy number analysis based on exome sequencing identified a heterozygous deletion of approximately 785 kb at chromosome 22q13.33 (NC_000022.11:g.49997038_50782295del), including the entire SHANK3 gene. Whether one of the parents carries a balanced chromosomal rearrangement has not yet been investigated.