Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report

Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report

Abstract Background Phelan-McDermid syndrome (PHMDS) is a rare genetic disorder mostly caused by haploinsufficincy of SHANK3 gene, and characterized by neonatal hypotonia, developmental delay, minor dysmorphic features, seizures and behavior problems. Literature of this syndrome is scanty and confus...

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Bibliographic Details
Main Authors: Yousif Khalifa, Hisham Y. Hassan, Anja Weise, Thomas Liehr, Haya Alkhayyat
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Molecular Cytogenetics
Subjects:
Phelan-McDermid syndrome (PHMDS)
Ring chromosome 22 (r(22))
22q13 deletion
22q13 duplication
Online Access:https://doi.org/10.1186/s13039-022-00629-7

Internet

https://doi.org/10.1186/s13039-022-00629-7

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