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Phelan-Mcdermid syndrome: three case reports and a literature review
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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.
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Title: Phelan-Mcdermid syndrome: three case reports and a literature review
Description:
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.
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