Background: Phelan-McDermid syndrome (PMS) [OMIM: 606232] is a neurodevelopmental disorder commonly due to a deletion of chromosome 22q13.3. It is characterized by neonatal hypotonia, severely delayed absenting speech, developmental delay, and minor dysmorphic facial features.
Case Presentation: The Comparative genomic hybridization array was performed on three patients referred to our genetics department for an autism spectrum disorder and facial dysmorphia. The results showed a deletion of chromosome 22.
Conclusion: In summary, the genotype-phenotype of PMS is still not clear. Moreover, the penetrance of this deletion seems to be incomplete for some genes, leading to variable phenotypes in patients with the same deletion.
Key words: Phelan-McDermid syndrome, 22q13 deletion syndrome, Autism spectrum disorder, neurodevelopmental disorder
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