Case Report
Volume: 8 | Issue: 9 | Published: Nov 05, 2024 | Pages: 192 - 195 | DOI: 10.24911/ejmcr.173-1685450588
Phelan-Mcdermid syndrome: Three Case Reports and a Literature Review
Authors: Berrada Sarah , Tazzite Amal , Fatima Maarouf , Gazzaz Bouchaib , Dehbi Hind
Article Info
Authors
Berrada Sarah
Medical Genetics Laboratory, Ibn Rochd University Hospital, Casablanca, Morocco.
Tazzite Amal
Laboratory of Cellular and Molecular Pathology, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, Morocco.
Fatima Maarouf
Institut Superieur des Professions Infirmieres et Techniques de Sante de Casablanca, Casablanca, Morocco.
Gazzaz Bouchaib
Genetics Analysis Institute, Royal Gendarmerie, Rabat, Morocco.
Dehbi Hind
Medical Genetics Laboratory, Ibn Rochd University Hospital, Casablanca, Morocco.
Publication History
Received: November 13, 2023
Accepted: April 25, 2024
Published: November 05, 2024
Abstract
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.
Keywords: Phelan-McDermid syndrome, 22q13 deletion syndrome, neurodevelopmental disorder.
