Journal article
A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report
Clinical case reports, Vol.5(6), pp.1013-1017
05/12/2017
DOI: 10.1002/ccr3.945
PMCID: PMC5457985
PMID: 28588858
Abstract
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.
Details
- Title: Subtitle
- A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report
- Creators
- Dina F. Ahram - Columbia UniversityYasser Al‐Sarraj - Hamad bin Khalifa UniversityRowaida Z. Taha - Hamad bin Khalifa UniversitySaba F. Elhag - Hamad bin Khalifa UniversityFouad A. Al‐Shaban - Hamad bin Khalifa UniversityHatem El‐Shanti - University of Jordan University of IowaMarios Kambouris - Yale University
- Resource Type
- Journal article
- Publication Details
- Clinical case reports, Vol.5(6), pp.1013-1017
- DOI
- 10.1002/ccr3.945
- PMID
- 28588858
- PMCID
- PMC5457985
- NLM abbreviation
- Clin Case Rep
- ISSN
- 2050-0904
- eISSN
- 2050-0904
- Publisher
- John Wiley and Sons Inc
- Grant note
- NPRP 6‐359‐3‐095 / Qatar National Research Fund
- Alternative title
- D. F. Ahram et al
- Language
- English
- Date published
- 05/12/2017
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984354512802771
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