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

Molecular Cytogenetics

Case Report

Hisham Y. Hassan¹  Haya Alkhayyat²  Yousif Khalifa²  Thomas Liehr³  Anja Weise³ 

[1] Banoon ART and Cytogenetics Centre, Bahrain Defence Force Hospital, P.O. Box: 28743, Riffa, Kingdom of Bahrain;Department of Pediatrics, Bahrain Defence Force Hospital, Riffa, Kingdom of Bahrain;University Hospital Jena, Friedrich, Jena, Germany;

关键词: Phelan-McDermid syndrome (PHMDS);    Ring chromosome 22 (r(22));    22q13 deletion;    22q13 duplication;   

DOI  :  10.1186/s13039-022-00629-7

 received in 2022-11-18, accepted in 2022-11-29,  发布年份 2022

来源: Springer

【 摘 要 】

BackgroundPhelan-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 confusing, and represents a challenge for pediatricians, in terms of finding the correct diagnoses.Case presentationIn a postnatal case with hypotonia and dysmorphic features a de novo ring chromosome r(22) leading to in parallel microdeletion and micro duplication in 22q13 was diagnosed by banding cytogenetics, and further characterized in detail by molecular cytogenetic and chromosomal microarray.ConclusionHere a rare PHMDS case caused by a r(22) is presented. Less than 10 comparable cases are reported in the literature. The present case highlights the importance of conducting genetic counseling and appropriate genetic tests for newborns with mild dysmorphic features.

【 授权许可】

CC BY   
© The Author(s) 2022

【 图 表 】

Fig. 5