Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review.

ABSTRACT:

Background

Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display considerably heterogeneous degrees of severity. The SHANK3 gene is understood to be the critical gene for the neurological features of this syndrome.

Case presentation

We describe one pair of boy-girl twins with a 22q13 deletion not involving the SHANK3 gene. Interestingly, the clinical and molecular findings of the two patients were identical, likely resulting from germline mosaicism in a parent. The boy-girl twins showed intellectual disability, speech absence, facial dysmorphism, cyanosis, large fleshy hands and feet, dysplastic fingernails and abnormal beh

SUBMITTER: Li S 

PROVIDER: S-EPMC7539423 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature