Open AccessA chromosomal microdeletion of 15q in a female patient with epilepsy, ID , and autism spectrum disorder: a case report
Author(s) -
Ahram Dina F.,
AlSarraj Yasser,
Taha Rowaida Z.,
Elhag Saba F.,
AlShaban Fouad A.,
ElShanti Hatem,
Kambouris Marios
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.945
Subject(s) - medicine , autism spectrum disorder , epilepsy , microdeletion syndrome , autism , angelman syndrome , intellectual disability , pediatrics , psychiatry , genetics , chromosome , gene , biology
Key Clinical Message 15q deletions have been described in association with intellectual disability and autism spectrum disorder ( ASD ). Previous reports have supported the role of 15q24 low copy repeats ( LCR s) in mediating alternatively sized genomic rearrangements. Based on our reported finding of a 15q24 deletion coinciding with two LCR regions in a patient with epilepsy and ASD , we recommend that patients with 15q24 deletions be evaluated for ASD for early institution of therapy.